Contact Information
Call us at: (614) 355-6850
Fax us at: (614) 355-6833
Institute for Genomic Medicine575 Children’s CrossroadColumbus, OH 43215 (map)
Learn more about Elaine R. Mardis
Research
Publications
Garcia-Recio S, Hinoue T, Wheeler GL, Kelly BJ, Garrido-Castro AC, Pascual T, De Cubas AA, Xia Y, Felsheim BM, McClure MB, Rajkovic A, Karaesmen E, Smith MA, Fan C, Ericsson PIG, Sanders ME, Creighton CJ, Bowen J, Leraas K, Burns RT, Coppens S, Wheless A, Rezk S, Garrett AL, Parker JS, Foy KK, Shen H, Park BH, Krop I, Anders C, Gastier-Foster J, Rimawi MF, Nanda R, Lin NU, Isaacs C, Marcom PK, Storniolo AM, Couch FJ, Chandran U, Davis M, Silverstein J, Ropelewski A, Liu MC, Hilsenbeck SG, Norton L, Richardson AL, Symmans WF, Wolff AC, Davidson NE, Carey LA, Lee AV, Balko JM, Hoadley KA, Laird PW, Mardis ER, King TA, AURORA US Network, Perou CM. Multiomics in primary and metastatic breast tumors from the AURORA US network finds microenvironment and epigenetic drivers of metastasis. Nat Cancer. 2022 Dec 30;
Fernandez-Rozadilla C, Timofeeva M, Chen Z, Law P, Thomas M, Schmit S, Díez-Obrero V, Hsu L, Fernandez-Tajes J, Palles C, Sherwood K, Briggs S, Svinti V, Donnelly K, Farrington S, Blackmur J, Vaughan-Shaw P, Shu XO, Long J, Cai Q, Guo X, Lu Y, Broderick P, Studd J, Huyghe J, Harrison T, Conti D, Dampier C, Devall M, Schumacher F, Melas M, Rennert G, Obón-Santacana M, Martín-Sánchez V, Moratalla-Navarro F, Oh JH, Kim J, Jee SH, Jung KJ, Kweon SS, Shin MH, Shin A, Ahn YO, Kim DH, Oze I, Wen W, Matsuo K, Matsuda K, Tanikawa C, Ren Z, Gao YT, Jia WH, Hopper J, Jenkins M, Win AK, Pai R, Figueiredo J, Haile R, Gallinger S, Woods M, Newcomb P, Duggan D, Cheadle J, Kaplan R, Maughan T, Kerr R, Kerr D, Kirac I, Böhm J, Mecklin LP, Jousilahti P, Knekt P, Aaltonen L, Rissanen H, Pukkala E, Eriksson J, Cajuso T, Hänninen U, Kondelin J, Palin K, Tanskanen T, Renkonen-Sinisalo L, Zanke B, Männistö S, Albanes D, Weinstein S, Ruiz-Narvaez E, Palmer J, Buchanan D, Platz E, Visvanathan K, Ulrich C, Siegel E, Brezina S, Gsur A, Campbell P, Chang-Claude J, Hoffmeister M, Brenner H, Slattery M, Potter J, Tsilidis K, Schulze M, Gunter M, Murphy N, Castells A, Castellví-Bel S, Moreira L, Arndt V, Shcherbina A, Stern M, Pardamean B, Bishop T, Giles G, Southey M, Idos G, McDonnell K, Abu-Ful Z, Greenson J, Shulman K, Lejbkowicz F, Offit K, Su YR, Steinfelder R, Keku T, van Guelpen B, Hudson T, Hampel H, Pearlman R, Berndt S, Hayes R, Martinez ME, Thomas S, Corley D, Pharoah P, Larsson S, Yen Y, Lenz HJ, White E, Li L, Doheny K, Pugh E, Shelford T, Chan A, Cruz-Correa M, Lindblom A, Hunter D, Joshi A, Schafmayer C, Scacheri P, Kundaje A, Nickerson D, Schoen R, Hampe J, Stadler Z, Vodicka P, Vodickova L, Vymetalkova V, Papadopoulos N, Edlund C, Gauderman W, Thomas D, Shibata D, Toland A, Markowitz S, Kim A, Chanock S, van Duijnhoven F, Feskens E, Sakoda L, Gago-Dominguez M, Wolk A, Naccarati A, Pardini B, FitzGerald L, Lee SC, Ogino S, Bien S, Kooperberg C, Li C, Lin Y, Prentice R, Qu C, Bézieau S, Tangen C, Mardis E, Yamaji T, Sawada N, Iwasaki M, Haiman C, Le Marchand L, Wu A, Qu C, McNeil C, Coetzee G, Hayward C, Deary I, Harris S, Theodoratou E, Reid S, Walker M, Ooi LY, Moreno V, Casey G, Gruber S, Tomlinson I, Zheng W, Dunlop M, Houlston R, Peters U. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nat Genet. 2022 Dec 20;
Kalathoor S, Rajendran S, Canella A, Raval R, Cripe TP, Mardis ER, Rajappa P. Myeloid cell heterogeneity in the tumor microenvironment and therapeutic implications for childhood central nervous system (CNS) tumors. J Neuroimmunol. 2022 Dec 5; 374: 578009.
Westfall JJ, Schwind WN, Sran S, Navarro JB, Leonard J, Pindrik JA, Pierson CR, Boué DR, Koboldt DC, Ostendorf AP, Wilson RK, Mardis ER, Miller KE, Bedrosian TA. Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis. Acta Neuropathol Commun. 2022 Nov 21; 10: 168.
Krysiak K, Danos AM, Saliba J, McMichael JF, Coffman AC, Kiwala S, Barnell EK, Sheta L, Grisdale CJ, Kujan L, Pema S, Lever J, Ridd S, Spies NC, Andric V, Chiorean A, Rieke DT, Clark KA, Reisle C, Venigalla AC, Evans M, Jani P, Takahashi H, Suda A, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Kesserwan C, Lamping M, Shen H, Marr AR, Hoang MH, Singhal K, Khanfar M, Li BV, Lin WH, Terraf P, Corson LB, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, King I, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith M, Griffith OL. CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase. Nucleic Acids Res. 2022 Nov 14;
Anderson KC, Cantley LC, Dalla-Favera R, Dang CV, Diaz LA, DuBois RN, Flaherty KT, Greenberg PD, Loda M, Mardis ER, Platz EA, Pollak MN, Schreiber RD, Siu LL, Teicher BA. The AACR Journals: Advancing Progress Toward the AACR's 115-Year Mission. Mol Cancer Ther. 2022 Nov 3; 21: 1625-1631.
Brenner JL, Jyo EM, Mohammad A, Fox P, Jones V, Mardis E, Schedl T, Maine EM. TRIM-NHL protein, NHL-2, modulates cell fate choices in the C. elegans germ line. Dev Biol. 2022 Sep 3; 491: 43-55.
Miller AR, Wijeratne S, McGrath SD, Schieffer KM, Miller KE, Lee K, Mathew M, LaHaye S, Fitch JR, Kelly BJ, White P, Mardis ER, Wilson RK, Cottrell CE, Magrini V. Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity. J Mol Diagn. 2022 Sep 30;
Cripe TP, Hutzen B, Currier MA, Chen CY, Glaspell AM, Sullivan GC, Hurley JM, Deighen MR, Venkataramany AS, Mo X, Stanek JR, Miller AR, Wijeratne S, Magrini V, Mardis ER, Mendell JR, Chandler DS, Wang PY. Leveraging gene therapy to achieve long-term continuous or controllable expression of biotherapeutics. Sci Adv. 2022 Jul 15; 8: eabm1890.
Koo SC, Schieffer KM, Lee K, Gupta A, Pfau RB, Avenarius MR, Stonerock E, LaHaye S, Fitch J, Setty BA, Roberts R, Ranalli M, Conces MR, Bu F, Mardis ER, Cottrell CE. EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors. Genes Chromosomes Cancer. 2022 Jul 7;
Larkin K, Nicolet D, Kelly BJ, Mrózek K, LaHaye S, Miller KE, Wijeratne S, Wheeler GL, Kohlschmidt J, Blachly JS, Mims AS, Walker C, Oakes CC, Orwick S, Boateng I, Buss J, Heyrosa A, Desai H, Carroll AJ, Blum W, Powell BL, Kolitz JE, Moore JO, Mayer RJ, Larson RA, Stone RM, Paskett ED, Byrd JC, Mardis E, Eisfeld AK. High early death rates, treatment resistance, and short survival of Black adolescents and young adults with AML. Blood Adv. 2022 Jul 5;
Skidmore ZL, Kunisaki J, Lin Y, Cotto KC, Barnell EK, Hundal J, Krysiak K, Magrini V, Trani L, Walker JR, Fulton R, Brunt EM, Miller CA, Wilson RK, Mardis ER, Griffith M, Chapman W, Griffith OL. Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers. Cancer Genet. 2022 Jun; 264-265: 90-99.
Bedrosian TA, Miller KE, Grischow OE, Schieffer KM, LaHaye S, Yoon H, Miller AR, Navarro J, Westfall J, Leraas K, Choi S, Williamson R, Fitch J, Kelly BJ, White P, Lee K, McGrath S, Cottrell CE, Magrini V, Leonard J, Pindrik J, Shaikhouni A, Boué DR, Thomas DL, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Koboldt DC. Detection of brain somatic variation in epilepsy-associated developmental lesions. Epilepsia. 2022 Jun 10;
De Faria FW, Schieffer KM, Pierson CR, Boue DR, LaHaye S, Miller KE, Amayiri N, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly B, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE, Rusin J, Finlay JL, Osorio DS. Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review. Genes Chromosomes Cancer. 2022 Jun 18;
Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 May; 3: 522-525.
Miller KE, Mardis ER. Pediatric CNS cancer genomics and immunogenomics. Curr Opin Genet Dev. 2022 May 23; 75: 101918.
Hetzel S, Mattei AL, Kretzmer H, Qu C, Chen X, Fan Y, Wu G, Roberts KG, Luger S, Litzow M, Rowe J, Paietta E, Stock W, Mardis ER, Wilson RK, Downing JR, Mullighan CG, Meissner A. Acute lymphoblastic leukemia displays a distinct highly methylated genome. Nat Cancer. 2022 May 19;
Eteleeb AM, Thunuguntla PK, Gelev KZ, Tang CY, Rozycki EB, Miller A, Lei JT, Jayasinghe RG, Dang HX, White NM, Reis-Filho JS, Mardis ER, Ellis MJ, Ding L, Silva-Fisher JM, Maher CA. LINC00355 regulates p27KIP expression by binding to MENIN to induce proliferation in late-stage relapse breast cancer. NPJ Breast Cancer. 2022 Apr 13; 8: 49.
Kautto EA, Schieffer KM, McGrath S, Miller AR, Hernandez Gonzalez ME, Choi S, Conces MR, Fernandez-Faith E, Ho ML, Lee K, Lillis AP, Pearson GD, Kaler SG, Wilson RK, Mardis ER, Magrini V, Leonard J, Cottrell CE. Expanding the Clinical Phenotype of FGFR1 Internal Tandem Duplication. Cold Spring Harb Mol Case Stud. 2022 Feb 11;
Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.
Baliga S, Matsui J, Klamer B, Cetnar A, Ewing A, Cadieux C, Gupta A, Setty BA, Roberts RD, Olshefski RS, Cripe TP, Scharschmidt TJ, Aldrink J, Mardis E, Yeager ND, Palmer JD. Clinical outcomes and efficacy of stereotactic body radiation therapy in children, adolescents, and young adults with metastatic solid tumors. Br J Radiol. 2022 Feb 10; 20211088.
Borozan I, Zaidi SH, Harrison TA, Phipps AI, Zheng J, Lee S, Trinh QM, Steinfelder RS, Adams J, Banbury BL, Berndt SI, Brezina S, Buchanan DD, Bullman S, Cao Y, Farris AB 3rd, Figueiredo JC, Giannakis M, Heisler LE, Hopper JL, Lin Y, Luo X, Nishihara R, Mardis ER, Papadopoulos N, Qu C, Reid EEG, Thibodeau SN, Harlid S, Um CY, Hsu L, Gsur A, Campbell PT, Gallinger S, Newcomb PA, Ogino S, Sun W, Hudson TJ, Ferretti V, Peters U. Molecular and Pathology Features of Colorectal Tumors and Patient Outcomes Are Associated with Fusobacterium nucleatum and Its Subspecies animalis. Cancer Epidemiol Biomarkers Prev. 2022 Jan; 31: 210-220.
Schaettler MO, Richters MM, Wang AZ, Skidmore ZL, Fisk B, Miller KE, Vickery TL, Kim AH, Chicoine MR, Osbun JW, Leuthardt EC, Dowling JL, Zipfel GJ, Dacey RG, Lu HC, Johanns TM, Griffith OL, Mardis ER, Griffith M, Dunn GP. Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis. Cancer Discov. 2022 Jan; 12: 154-171.
Miller KE, MacDonald JP, Sullivan L, Venkata LPR, Shi J, Yeates KO, Chen S, Alshaikh E, Taylor HG, Hautmann A, Asa N, Cohen DM, Pommering TL, Mardis ER, Yang J, NCH Concussion Research Group.. Salivary miRNA Expression in Children With Persistent Post-concussive Symptoms. Front Public Health. 2022; 10: 890420.
Miller KE, Wheeler G, LaHaye S, Schieffer KM, Cearlock S, Venkata LPR, Bravo AO, Grischow OE, Kelly BJ, White P, Pierson CR, Boué DR, Koo SC, Klawinski D, Ranalli MA, Shaikhouni A, Salloum R, Shatara M, Leonard JR, Wilson RK, Cottrell CE, Mardis ER, Koboldt DC. Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement. Front Oncol. 2022; 12: 932337.
Upadhyay R, Yadav D, Venkatesulu BP, Singh R, Baliga S, Raval RR, Lazow MA, Salloum R, Fouladi M, Mardis ER, Zaorsky NG, Trifiletti DM, Paulino AC, Palmer JD. Risk of secondary malignant neoplasms in children following proton therapy vs. photon therapy for primary CNS tumors: A systematic review and meta-analysis. Front Oncol. 2022; 12: 893855.
Ronsley R, Boué DR, Venkata LPR, Scott S, Shaikhouni A, Jones J, Schieffer KM, Cottrell CE, Mardis ER, Olshefski R, Salloum R, Miller KE. An unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient. Neurooncol Adv. 2022 Jan-Dec; 4: vdac121.
Lek M, Mardis ER. Envisioning the next human genome reference. Dis Model Mech. 2021 Dec 1; 14:
Shatara M, Schieffer KM, Klawinski D, Thomas DL, Pierson CR, Sribnick EA, Jones J, Rodriguez DP, Deeg C, Hamelberg E, LaHaye S, Miller KE, Fitch J, Kelly B, Leraas K, Pfau R, White P, Magrini V, Wilson RK, Mardis ER, Abdelbaki MS, Finlay JL, Boué DR, Cottrell CE, Ghasemi DR, Pajtler KW, Osorio DS. Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas. Acta Neuropathol Commun. 2021 Dec 11; 9: 192.
LaHaye S, Fitch JR, Voytovich KJ, Herman AC, Kelly BJ, Lammi GE, Arbesfeld JA, Wijeratne S, Franklin SJ, Schieffer KM, Bir N, McGrath SD, Miller AR, Wetzel A, Miller KE, Bedrosian TA, Leraas K, Varga EA, Lee K, Gupta A, Setty B, Boué DR, Leonard JR, Finlay JL, Abdelbaki MS, Osorio DS, Koo SC, Koboldt DC, Wagner AH, Eisfeld AK, Mrózek K, Magrini V, Cottrell CE, Mardis ER, Wilson RK, White P. Discovery of clinically relevant fusions in pediatric cancer. BMC Genomics. 2021 Dec 4; 22: 872.
Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7:
Mardis ER. The emergence of cancer genomics in diagnosis and precision medicine. Nat Cancer. 2021 Dec; 2: 1263-1264.
Trikha P, Moseman JE, Thakkar A, Campbell AR, Elmas E, Foltz JA, Chakravarti N, Fitch JR, Mardis ER, Lee DA. Defining the AHR-regulated transcriptome in NK cells reveals gene expression programs relevant to development and function. Blood Adv. 2021 Nov 23; 5: 4605-4618.
Gorsi B, Hernandez E, Moore MB, Moriwaki M, Chow CY, Coelho E, Taylor E, Lu C, Walker A, Touraine P, Nelson LM, Cooper AR, Mardis ER, Rajkovic A, Yandell M, Welt CK. Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency. J Clin Endocrinol Metab. 2021 Oct 26;
Gupta A, Liu H, Schieffer KM, Koo SC, Cottrell CE, Mardis ER, Roberts RD, Yeager ND. Targeted Therapy in a Young Adult With a Novel Epithelioid Tumor Driven by a PRRC2B-ALK Fusion. J Natl Compr Canc Netw. 2021 Oct 15; 19: 1116-1121.
Ghonime MG, Saini U, Kelly MC, Roth JC, Wang PY, Chen CY, Miller K, Hernandez-Aguirre I, Kim Y, Mo X, Stanek JR, Cripe T, Mardis E, Cassady KA. Eliciting an immune-mediated antitumor response through oncolytic herpes simplex virus-based shared antigen expression in tumors resistant to viroimmunotherapy. J Immunother Cancer. 2021 Oct; 9:
Koo SC, LaHaye S, Kovari BP, Schieffer KM, Ranalli MA, Aldrink JH, Michalsky MP, Colace S, Miller KE, Bedrosian TA, Leraas KM, Voytovich K, Wheeler G, Brennan P, Fitch J, Kelly BJ, McGrath SD, Miller AR, White P, Magrini V, Wilson RK, Mardis ER, Lauwers GY, Baker PB, Cottrell CE. Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence. Genes Chromosomes Cancer. 2021 Sep; 60: 640-646.
Mardis ER. Genomic prediction of neoantigens: immunogenomics before NGS. Nat Rev Genet. 2021 Sep; 22: 550-551.
Logan SJ, Schieffer KM, Conces MR, Stonerock E, Miller AR, Fitch J, LaHaye S, Voytovich K, McGrath S, Magrini V, White P, Wilson RK, Mardis ER, Cottrell CE, Koo SC. Novel morphologic findings in PLAG1-rearranged soft tissue tumors. Genes Chromosomes Cancer. 2021 Aug; 60: 577-585.
Wedekind MF, Miller KE, Chen CY, Wang PY, Hutzen BJ, Currier MA, Nartker B, Roberts RD, Boon L, Conner J, LaHaye S, Kelly BJ, Gordon D, White P, Mardis ER, Cripe TP. Endogenous retrovirus envelope as a tumor-associated immunotherapeutic target in murine osteosarcoma. iScience. 2021 Jul 23; 24: 102759.
Koboldt DC, Miller KE, Miller AR, Bush JM, McGrath S, Leraas K, Crist E, Fair S, Schwind W, Wijeratne S, Fitch J, Leonard J, Shaikhouni A, Hester ME, Magrini V, Ho ML, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Bedrosian TA. PTEN somatic mutations contribute to spectrum of cerebral overgrowth. Brain. 2021 May 28;
Schieffer KM, Feldman AZ, Kautto EA, McGrath S, Miller AR, Hernandez-Gonzalez ME, LaHaye S, Miller KE, Koboldt DC, Brennan P, Kelly B, Wetzel A, Agarwal V, Shatara M, Conley S, Rodriguez DP, Abu-Arja R, Shaikhkhalil A, Snuderl M, Orr BA, Finlay JL, Osorio DS, Drapeau AI, Leonard JR, Pierson CR, White P, Magrini V, Mardis ER, Wilson RK, Cottrell CE, Boué DR. Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma. Acta Neuropathol Commun. 2021 Apr 7; 9: 61.
Miller KE, Schieffer KM, Grischow O, Rodriguez DP, Cottrell CE, Leonard JR, Finlay JL, Mardis ER. Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation. Cold Spring Harb Mol Case Stud. 2021 Apr; 7:
Cable J, Greenbaum B, Pe'er D, Bollard CM, Bruni S, Griffin ME, Allison JP, Wu CJ, Subudhi SK, Mardis ER, Brentjens R, Sosman JA, Cemerski S, Zavitsanou AM, Proia T, Egeblad M, Nolan G, Goswami S, Spranger S, Mackall CL. Frontiers in cancer immunotherapy-a symposium report. Ann N Y Acad Sci. 2021 Apr; 1489: 30-47.
Collier KA, Asad S, Tallman D, Jenison J, Rajkovic A, Mardis ER, Parsons HA, Tolaney SM, Winer EP, Lin NU, Ha G, Adalsteinsson VA, Stover DG. Association of 17q22 Amplicon Via Cell-Free DNA With Platinum Chemotherapy Response in Metastatic Triple-Negative Breast Cancer. JCO Precis Oncol. 2021; 5:
Prasad RN, Gardner UG, Yaney A, Prevedello DM, Koboldt DC, Thomas DL, Mardis ER, Palmer JD. Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review. Front Oncol. 2021; 11: 721712.
Natarajan L, Pu M, Davies SR, Vickery TL, Nelson SH, Pittman E, Parker BA, Ellis MJ, Flatt SW, Mardis ER, Marinac CR, Pierce JP, Messer K. MiRNAs and long-term breast cancer survival: Evidence from the WHEL Study. Cancer Epidemiol Biomarkers Prev. 2019 Jun 11;
Robinson KM, Yang W, Karol SE, Kornegay N, Jay D, Cheng C, Choi JK, Campana D, Pui CH, Wood B, Borowitz MJ, Gastier-Foster J, Larsen EC, Winick N, Carroll WL, Loh ML, Raetz EA, Hunger SP, Devidas M, Mardis ER, Fulton RS, Relling MV, Jeha S. No evidence that G6PD deficiency affects the efficacy or safety of daunorubicin in acute lymphoblastic leukemia induction therapy. Pediatr Blood Cancer. 2019 Jun; 66: e27681.
Schieffer KM, Varga E, Miller KE, Agarwal V, Koboldt DC, Brennan P, Kelly B, Dave-Wala A, Pierson CR, Finlay JL, AbdelBaki MS, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE. Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma. Eur J Med Genet. 2019 Jun 10; 103701.
Darby CA, Fitch JR, Brennan PJ, Kelly BJ, Bir N, Magrini V, Leonard J, Cottrell CE, Gastier-Foster JM, Wilson RK, Mardis ER, White P, Langmead B, Schatz MC. Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads. iScience. 2019 May 29; 18: 1-10.
Ferreira-Gonzalez A, Mardis ER. Precision oncogenomics. Cold Spring Harb Mol Case Stud. 2019 Apr; 5:
Brady SW, Ma X, Bahrami A, Satas G, Wu G, Newman S, Rusch M, Putnam DK, Mulder HL, Yergeau DA, Edmonson MN, Easton J, Alexandrov LB, Chen X, Mardis ER, Wilson RK, Downing JR, Pappo AS, Raphael BJ, Dyer MA, Zhang J. The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. Mol Cancer Res. 2019 Apr; 17: 895-906.
Yusko E, Vignali M, Wilson RK, Mardis ER, Hodi FS, Horak C, Chang H, Woods DM, Robins H, Weber J. Association of Tumor Microenvironment T-cell Repertoire and Mutational Load with Clinical Outcome after Sequential Checkpoint Blockade in Melanoma. Cancer Immunol Res. 2019 Mar; 7: 458-465.
Haage V, Semtner M, Vidal RO, Hernandez DP, Pong WW, Chen Z, Hambardzumyan D, Magrini V, Ly A, Walker J, Mardis E, Mertins P, Sauer S, Kettenmann H, Gutmann DH. Comprehensive gene expression meta-analysis identifies signature genes that distinguish microglia from peripheral monocytes/macrophages in health and glioma. Acta Neuropathol Commun. 2019 Feb 14; 7: 20.
Hundal J, Kiwala S, Feng YY, Liu CJ, Govindan R, Chapman WC, Uppaluri R, Swamidass SJ, Griffith OL, Mardis ER, Griffith M. Accounting for proximal variants improves neoantigen prediction. Nat Genet. 2019 Jan; 51: 175-179.
Johanns TM, Miller CA, Liu CJ, Perrin RJ, Bender D, Kobayashi DK, Campian JL, Chicoine MR, Dacey RG, Huang J, Fritsch EF, Gillanders WE, Artyomov MN, Mardis ER, Schreiber RD, Dunn GP. Detection of neoantigen-specific T cells following a personalized vaccine in a patient with glioblastoma. Oncoimmunology. 2019; 8: e1561106.
Ainscough BJ, Barnell EK, Ronning P, Campbell KM, Wagner AH, Fehniger TA, Dunn GP, Uppaluri R, Govindan R, Rohan TE, Griffith M, Mardis ER, Swamidass SJ, Griffith OL. A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data. Nat Genet. 2018 Dec; 50: 1735-1743.
McCombie WR, McPherson JD, Mardis ER. Next-Generation Sequencing Technologies. Cold Spring Harb Perspect Med. 2018 Nov 26;
Mardis ER. The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic. Cold Spring Harb Perspect Med. 2018 Nov 5;
Wagner AH, Devarakonda S, Skidmore ZL, Krysiak K, Ramu A, Trani L, Kunisaki J, Masood A, Waqar SN, Spies NC, Morgensztern D, Waligorski J, Ponce J, Fulton RS, Maggi LB Jr, Weber JD, Watson MA, O'Conor CJ, Ritter JH, Olsen RR, Cheng H, Mukhopadhyay A, Can I, Cessna MH, Oliver TG, Mardis ER, Wilson RK, Griffith M, Griffith OL, Govindan R. Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer. Nat Commun. 2018 Sep 17; 9: 3787.
Stewart E, McEvoy J, Wang H, Chen X, Honnell V, Ocarz M, Gordon B, Dapper J, Blankenship K, Yang Y, Li Y, Shaw TI, Cho JH, Wang X, Xu B, Gupta P, Fan Y, Liu Y, Rusch M, Griffiths L, Jeon J, Freeman BB 3rd, Clay MR, Pappo A, Easton J, Shurtleff S, Shelat A, Zhou X, Boggs K, Mulder H, Yergeau D, Bahrami A, Mardis ER, Wilson RK, Zhang J, Peng J, Downing JR, Dyer MA, St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project.. Identification of Therapeutic Targets in Rhabdomyosarcoma through Integrated Genomic, Epigenomic, and Proteomic Analyses. Cancer Cell. 2018 Sep 10; 34: 411-426.e19.
Campbell KM, Lin T, Zolkind P, Barnell EK, Skidmore ZL, Winkler AE, Law JH, Mardis ER, Wartman LD, Adkins DR, Chernock RD, Griffith M, Uppaluri R, Griffith OL. Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity. Cell Rep. 2018 Aug 21; 24: 2167-2178.
Tanioka M, Fan C, Parker JS, Hoadley KA, Hu Z, Li Y, Hyslop TM, Pitcher BN, Soloway MG, Spears PA, Henry LN, Tolaney S, Dang CT, Krop IE, Harris LN, Berry DA, Mardis ER, Winer EP, Hudis CA, Carey LA, Perou CM. Integrated Analysis of RNA and DNA from the Phase III Trial CALGB 40601 Identifies Predictors of Response to Trastuzumab-Based Neoadjuvant Chemotherapy in HER2-Positive Breast Cancer. Clin Cancer Res. 2018 Jul 23;
Rohan TE, Miller CA, Li T, Wang Y, Loudig O, Ginsberg M, Glass A, Mardis E. Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer. Br J Cancer. 2018 Jun; 118: 1662-1664.
Berger MF, Mardis ER. The emerging clinical relevance of genomics in cancer medicine. Nat Rev Clin Oncol. 2018 Jun; 15: 353-365.
Churchman ML, Qian M, Te Kronnie G, Zhang R, Yang W, Zhang H, Lana T, Tedrick P, Baskin R, Verbist K, Peters JL, Devidas M, Larsen E, Moore IM, Gu Z, Qu C, Yoshihara H, Porter SN, Pruett-Miller SM, Wu G, Raetz E, Martin PL, Bowman WP, Winick N, Mardis E, Fulton R, Stanulla M, Evans WE, Relling MV, Pui CH, Hunger SP, Loh ML, Handgretinger R, Nichols KE, Yang JJ, Mullighan CG. Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. Cancer Cell. 2018 May 14; 33: 937-948.e8.
Mardis ER. Clinical and Genomic Insights from Metastatic Cancers. Clin Chem. 2018 May; 64: 766-768.
Siegel MB, He X, Hoadley KA, Hoyle A, Pearce JB, Garrett AL, Kumar S, Moylan VJ, Brady CM, Van Swearingen AE, Marron D, Gupta GP, Thorne LB, Kieran N, Livasy C, Mardis ER, Parker JS, Chen M, Anders CK, Carey LA, Perou CM. Integrated RNA and DNA sequencing reveals early drivers of metastatic breast cancer. J Clin Invest. 2018 Apr 2; 128: 1371-1383.
Miller CA, Dahiya S, Li T, Fulton RS, Smyth MD, Dunn GP, Rubin JB, Mardis ER. Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patient. Cold Spring Harb Mol Case Stud. 2018 Apr; 4:
White BS, Lanc I, O'Neal J, Gupta H, Fulton RS, Schmidt H, Fronick C, Belter EA Jr, Fiala M, King J, Ahmann GJ, DeRome M, Mardis ER, Vij R, DiPersio JF, Levy J, Auclair D, Tomasson MH. A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5. Blood Cancer J. 2018 Mar 21; 8: 35.
Mardis E. Many mutations in one clinical-trial basket. Nature. 2018 Feb 8; 554: 173-175.
View More Publications
Biography
Elaine Mardis, PhD, is co-Executive Director of the Institute for Genomic Medicine at Nationwide Children’s Hospital and the Steve and Cindy Rasmussen Endowed Chair in Genomic Medicine. She also is Professor of Pediatrics at The Ohio State University College of Medicine. Dr. Mardis joined Nationwide Children’s Hospital in 2016. Educated at the University of Oklahoma with a B.S. in Zoology and a Ph.D. in Chemistry and Biochemistry, Dr. Mardis did postgraduate work in industry at BioRad Laboratories. She was a member of the faculty of Washington University School of Medicine from 1993-2016. Dr. Mardis has authored over 350 articles in prestigious peer-reviewed journals and has written book chapters for several medical textbooks. She serves as an associate editor for three peer-reviewed journals (Disease Models and Mechanisms, Molecular Cancer Research, and Annals of Oncology) and is Editor-in-Chief of Molecular Case Studies, published by Cold Spring Harbor Press. Dr. Mardis has given lectures at scientific meetings worldwide, and was awarded the Morton K Schwartz award from the American Association for Clinical Chemistry in 2016. She has been listed since 2013 as one of the most highly cited researchers in the world by Thompson Reuters. Dr. Mardis has been a member of the American Association for Cancer Research (AACR) since 2007, was the program committee chair for the 2018 AACR Annual Meeting, and is the AACR President-elect.
See Elaine R. Mardis’s Curriculum Vitae (CV)
Education
Graduate School
University of Oklahoma
Date Completed: 12/31/1989
Undergraduate School
University of Oklahoma
Date Completed: 12/31/1984
Contact Information
Institute for Genomic Medicine
Call us at: (614) 355-6850
Fax us at: (614) 355-6833
575 Children’s CrossroadColumbus, OH 43215 (map)
Contact Information
Call us at: (614) 355-6850
Fax us at: (614) 355-6833
Institute for Genomic Medicine575 Children’s CrossroadColumbus, OH 43215 (map)
Learn more about Elaine R. Mardis
Research
Publications
Garcia-Recio S, Hinoue T, Wheeler GL, Kelly BJ, Garrido-Castro AC, Pascual T, De Cubas AA, Xia Y, Felsheim BM, McClure MB, Rajkovic A, Karaesmen E, Smith MA, Fan C, Ericsson PIG, Sanders ME, Creighton CJ, Bowen J, Leraas K, Burns RT, Coppens S, Wheless A, Rezk S, Garrett AL, Parker JS, Foy KK, Shen H, Park BH, Krop I, Anders C, Gastier-Foster J, Rimawi MF, Nanda R, Lin NU, Isaacs C, Marcom PK, Storniolo AM, Couch FJ, Chandran U, Davis M, Silverstein J, Ropelewski A, Liu MC, Hilsenbeck SG, Norton L, Richardson AL, Symmans WF, Wolff AC, Davidson NE, Carey LA, Lee AV, Balko JM, Hoadley KA, Laird PW, Mardis ER, King TA, AURORA US Network, Perou CM. Multiomics in primary and metastatic breast tumors from the AURORA US network finds microenvironment and epigenetic drivers of metastasis. Nat Cancer. 2022 Dec 30;
Fernandez-Rozadilla C, Timofeeva M, Chen Z, Law P, Thomas M, Schmit S, Díez-Obrero V, Hsu L, Fernandez-Tajes J, Palles C, Sherwood K, Briggs S, Svinti V, Donnelly K, Farrington S, Blackmur J, Vaughan-Shaw P, Shu XO, Long J, Cai Q, Guo X, Lu Y, Broderick P, Studd J, Huyghe J, Harrison T, Conti D, Dampier C, Devall M, Schumacher F, Melas M, Rennert G, Obón-Santacana M, Martín-Sánchez V, Moratalla-Navarro F, Oh JH, Kim J, Jee SH, Jung KJ, Kweon SS, Shin MH, Shin A, Ahn YO, Kim DH, Oze I, Wen W, Matsuo K, Matsuda K, Tanikawa C, Ren Z, Gao YT, Jia WH, Hopper J, Jenkins M, Win AK, Pai R, Figueiredo J, Haile R, Gallinger S, Woods M, Newcomb P, Duggan D, Cheadle J, Kaplan R, Maughan T, Kerr R, Kerr D, Kirac I, Böhm J, Mecklin LP, Jousilahti P, Knekt P, Aaltonen L, Rissanen H, Pukkala E, Eriksson J, Cajuso T, Hänninen U, Kondelin J, Palin K, Tanskanen T, Renkonen-Sinisalo L, Zanke B, Männistö S, Albanes D, Weinstein S, Ruiz-Narvaez E, Palmer J, Buchanan D, Platz E, Visvanathan K, Ulrich C, Siegel E, Brezina S, Gsur A, Campbell P, Chang-Claude J, Hoffmeister M, Brenner H, Slattery M, Potter J, Tsilidis K, Schulze M, Gunter M, Murphy N, Castells A, Castellví-Bel S, Moreira L, Arndt V, Shcherbina A, Stern M, Pardamean B, Bishop T, Giles G, Southey M, Idos G, McDonnell K, Abu-Ful Z, Greenson J, Shulman K, Lejbkowicz F, Offit K, Su YR, Steinfelder R, Keku T, van Guelpen B, Hudson T, Hampel H, Pearlman R, Berndt S, Hayes R, Martinez ME, Thomas S, Corley D, Pharoah P, Larsson S, Yen Y, Lenz HJ, White E, Li L, Doheny K, Pugh E, Shelford T, Chan A, Cruz-Correa M, Lindblom A, Hunter D, Joshi A, Schafmayer C, Scacheri P, Kundaje A, Nickerson D, Schoen R, Hampe J, Stadler Z, Vodicka P, Vodickova L, Vymetalkova V, Papadopoulos N, Edlund C, Gauderman W, Thomas D, Shibata D, Toland A, Markowitz S, Kim A, Chanock S, van Duijnhoven F, Feskens E, Sakoda L, Gago-Dominguez M, Wolk A, Naccarati A, Pardini B, FitzGerald L, Lee SC, Ogino S, Bien S, Kooperberg C, Li C, Lin Y, Prentice R, Qu C, Bézieau S, Tangen C, Mardis E, Yamaji T, Sawada N, Iwasaki M, Haiman C, Le Marchand L, Wu A, Qu C, McNeil C, Coetzee G, Hayward C, Deary I, Harris S, Theodoratou E, Reid S, Walker M, Ooi LY, Moreno V, Casey G, Gruber S, Tomlinson I, Zheng W, Dunlop M, Houlston R, Peters U. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nat Genet. 2022 Dec 20;
Kalathoor S, Rajendran S, Canella A, Raval R, Cripe TP, Mardis ER, Rajappa P. Myeloid cell heterogeneity in the tumor microenvironment and therapeutic implications for childhood central nervous system (CNS) tumors. J Neuroimmunol. 2022 Dec 5; 374: 578009.
Westfall JJ, Schwind WN, Sran S, Navarro JB, Leonard J, Pindrik JA, Pierson CR, Boué DR, Koboldt DC, Ostendorf AP, Wilson RK, Mardis ER, Miller KE, Bedrosian TA. Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis. Acta Neuropathol Commun. 2022 Nov 21; 10: 168.
Krysiak K, Danos AM, Saliba J, McMichael JF, Coffman AC, Kiwala S, Barnell EK, Sheta L, Grisdale CJ, Kujan L, Pema S, Lever J, Ridd S, Spies NC, Andric V, Chiorean A, Rieke DT, Clark KA, Reisle C, Venigalla AC, Evans M, Jani P, Takahashi H, Suda A, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Kesserwan C, Lamping M, Shen H, Marr AR, Hoang MH, Singhal K, Khanfar M, Li BV, Lin WH, Terraf P, Corson LB, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, King I, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith M, Griffith OL. CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase. Nucleic Acids Res. 2022 Nov 14;
Anderson KC, Cantley LC, Dalla-Favera R, Dang CV, Diaz LA, DuBois RN, Flaherty KT, Greenberg PD, Loda M, Mardis ER, Platz EA, Pollak MN, Schreiber RD, Siu LL, Teicher BA. The AACR Journals: Advancing Progress Toward the AACR's 115-Year Mission. Mol Cancer Ther. 2022 Nov 3; 21: 1625-1631.
Brenner JL, Jyo EM, Mohammad A, Fox P, Jones V, Mardis E, Schedl T, Maine EM. TRIM-NHL protein, NHL-2, modulates cell fate choices in the C. elegans germ line. Dev Biol. 2022 Sep 3; 491: 43-55.
Miller AR, Wijeratne S, McGrath SD, Schieffer KM, Miller KE, Lee K, Mathew M, LaHaye S, Fitch JR, Kelly BJ, White P, Mardis ER, Wilson RK, Cottrell CE, Magrini V. Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity. J Mol Diagn. 2022 Sep 30;
Cripe TP, Hutzen B, Currier MA, Chen CY, Glaspell AM, Sullivan GC, Hurley JM, Deighen MR, Venkataramany AS, Mo X, Stanek JR, Miller AR, Wijeratne S, Magrini V, Mardis ER, Mendell JR, Chandler DS, Wang PY. Leveraging gene therapy to achieve long-term continuous or controllable expression of biotherapeutics. Sci Adv. 2022 Jul 15; 8: eabm1890.
Koo SC, Schieffer KM, Lee K, Gupta A, Pfau RB, Avenarius MR, Stonerock E, LaHaye S, Fitch J, Setty BA, Roberts R, Ranalli M, Conces MR, Bu F, Mardis ER, Cottrell CE. EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors. Genes Chromosomes Cancer. 2022 Jul 7;
Larkin K, Nicolet D, Kelly BJ, Mrózek K, LaHaye S, Miller KE, Wijeratne S, Wheeler GL, Kohlschmidt J, Blachly JS, Mims AS, Walker C, Oakes CC, Orwick S, Boateng I, Buss J, Heyrosa A, Desai H, Carroll AJ, Blum W, Powell BL, Kolitz JE, Moore JO, Mayer RJ, Larson RA, Stone RM, Paskett ED, Byrd JC, Mardis E, Eisfeld AK. High early death rates, treatment resistance, and short survival of Black adolescents and young adults with AML. Blood Adv. 2022 Jul 5;
Skidmore ZL, Kunisaki J, Lin Y, Cotto KC, Barnell EK, Hundal J, Krysiak K, Magrini V, Trani L, Walker JR, Fulton R, Brunt EM, Miller CA, Wilson RK, Mardis ER, Griffith M, Chapman W, Griffith OL. Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers. Cancer Genet. 2022 Jun; 264-265: 90-99.
Bedrosian TA, Miller KE, Grischow OE, Schieffer KM, LaHaye S, Yoon H, Miller AR, Navarro J, Westfall J, Leraas K, Choi S, Williamson R, Fitch J, Kelly BJ, White P, Lee K, McGrath S, Cottrell CE, Magrini V, Leonard J, Pindrik J, Shaikhouni A, Boué DR, Thomas DL, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Koboldt DC. Detection of brain somatic variation in epilepsy-associated developmental lesions. Epilepsia. 2022 Jun 10;
De Faria FW, Schieffer KM, Pierson CR, Boue DR, LaHaye S, Miller KE, Amayiri N, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly B, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE, Rusin J, Finlay JL, Osorio DS. Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review. Genes Chromosomes Cancer. 2022 Jun 18;
Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 May; 3: 522-525.
Miller KE, Mardis ER. Pediatric CNS cancer genomics and immunogenomics. Curr Opin Genet Dev. 2022 May 23; 75: 101918.
Hetzel S, Mattei AL, Kretzmer H, Qu C, Chen X, Fan Y, Wu G, Roberts KG, Luger S, Litzow M, Rowe J, Paietta E, Stock W, Mardis ER, Wilson RK, Downing JR, Mullighan CG, Meissner A. Acute lymphoblastic leukemia displays a distinct highly methylated genome. Nat Cancer. 2022 May 19;
Eteleeb AM, Thunuguntla PK, Gelev KZ, Tang CY, Rozycki EB, Miller A, Lei JT, Jayasinghe RG, Dang HX, White NM, Reis-Filho JS, Mardis ER, Ellis MJ, Ding L, Silva-Fisher JM, Maher CA. LINC00355 regulates p27KIP expression by binding to MENIN to induce proliferation in late-stage relapse breast cancer. NPJ Breast Cancer. 2022 Apr 13; 8: 49.
Kautto EA, Schieffer KM, McGrath S, Miller AR, Hernandez Gonzalez ME, Choi S, Conces MR, Fernandez-Faith E, Ho ML, Lee K, Lillis AP, Pearson GD, Kaler SG, Wilson RK, Mardis ER, Magrini V, Leonard J, Cottrell CE. Expanding the Clinical Phenotype of FGFR1 Internal Tandem Duplication. Cold Spring Harb Mol Case Stud. 2022 Feb 11;
Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.
Baliga S, Matsui J, Klamer B, Cetnar A, Ewing A, Cadieux C, Gupta A, Setty BA, Roberts RD, Olshefski RS, Cripe TP, Scharschmidt TJ, Aldrink J, Mardis E, Yeager ND, Palmer JD. Clinical outcomes and efficacy of stereotactic body radiation therapy in children, adolescents, and young adults with metastatic solid tumors. Br J Radiol. 2022 Feb 10; 20211088.
Borozan I, Zaidi SH, Harrison TA, Phipps AI, Zheng J, Lee S, Trinh QM, Steinfelder RS, Adams J, Banbury BL, Berndt SI, Brezina S, Buchanan DD, Bullman S, Cao Y, Farris AB 3rd, Figueiredo JC, Giannakis M, Heisler LE, Hopper JL, Lin Y, Luo X, Nishihara R, Mardis ER, Papadopoulos N, Qu C, Reid EEG, Thibodeau SN, Harlid S, Um CY, Hsu L, Gsur A, Campbell PT, Gallinger S, Newcomb PA, Ogino S, Sun W, Hudson TJ, Ferretti V, Peters U. Molecular and Pathology Features of Colorectal Tumors and Patient Outcomes Are Associated with Fusobacterium nucleatum and Its Subspecies animalis. Cancer Epidemiol Biomarkers Prev. 2022 Jan; 31: 210-220.
Schaettler MO, Richters MM, Wang AZ, Skidmore ZL, Fisk B, Miller KE, Vickery TL, Kim AH, Chicoine MR, Osbun JW, Leuthardt EC, Dowling JL, Zipfel GJ, Dacey RG, Lu HC, Johanns TM, Griffith OL, Mardis ER, Griffith M, Dunn GP. Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis. Cancer Discov. 2022 Jan; 12: 154-171.
Miller KE, MacDonald JP, Sullivan L, Venkata LPR, Shi J, Yeates KO, Chen S, Alshaikh E, Taylor HG, Hautmann A, Asa N, Cohen DM, Pommering TL, Mardis ER, Yang J, NCH Concussion Research Group.. Salivary miRNA Expression in Children With Persistent Post-concussive Symptoms. Front Public Health. 2022; 10: 890420.
Miller KE, Wheeler G, LaHaye S, Schieffer KM, Cearlock S, Venkata LPR, Bravo AO, Grischow OE, Kelly BJ, White P, Pierson CR, Boué DR, Koo SC, Klawinski D, Ranalli MA, Shaikhouni A, Salloum R, Shatara M, Leonard JR, Wilson RK, Cottrell CE, Mardis ER, Koboldt DC. Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement. Front Oncol. 2022; 12: 932337.
Upadhyay R, Yadav D, Venkatesulu BP, Singh R, Baliga S, Raval RR, Lazow MA, Salloum R, Fouladi M, Mardis ER, Zaorsky NG, Trifiletti DM, Paulino AC, Palmer JD. Risk of secondary malignant neoplasms in children following proton therapy vs. photon therapy for primary CNS tumors: A systematic review and meta-analysis. Front Oncol. 2022; 12: 893855.
Ronsley R, Boué DR, Venkata LPR, Scott S, Shaikhouni A, Jones J, Schieffer KM, Cottrell CE, Mardis ER, Olshefski R, Salloum R, Miller KE. An unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient. Neurooncol Adv. 2022 Jan-Dec; 4: vdac121.
Lek M, Mardis ER. Envisioning the next human genome reference. Dis Model Mech. 2021 Dec 1; 14:
Shatara M, Schieffer KM, Klawinski D, Thomas DL, Pierson CR, Sribnick EA, Jones J, Rodriguez DP, Deeg C, Hamelberg E, LaHaye S, Miller KE, Fitch J, Kelly B, Leraas K, Pfau R, White P, Magrini V, Wilson RK, Mardis ER, Abdelbaki MS, Finlay JL, Boué DR, Cottrell CE, Ghasemi DR, Pajtler KW, Osorio DS. Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas. Acta Neuropathol Commun. 2021 Dec 11; 9: 192.
LaHaye S, Fitch JR, Voytovich KJ, Herman AC, Kelly BJ, Lammi GE, Arbesfeld JA, Wijeratne S, Franklin SJ, Schieffer KM, Bir N, McGrath SD, Miller AR, Wetzel A, Miller KE, Bedrosian TA, Leraas K, Varga EA, Lee K, Gupta A, Setty B, Boué DR, Leonard JR, Finlay JL, Abdelbaki MS, Osorio DS, Koo SC, Koboldt DC, Wagner AH, Eisfeld AK, Mrózek K, Magrini V, Cottrell CE, Mardis ER, Wilson RK, White P. Discovery of clinically relevant fusions in pediatric cancer. BMC Genomics. 2021 Dec 4; 22: 872.
Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7:
Mardis ER. The emergence of cancer genomics in diagnosis and precision medicine. Nat Cancer. 2021 Dec; 2: 1263-1264.
Trikha P, Moseman JE, Thakkar A, Campbell AR, Elmas E, Foltz JA, Chakravarti N, Fitch JR, Mardis ER, Lee DA. Defining the AHR-regulated transcriptome in NK cells reveals gene expression programs relevant to development and function. Blood Adv. 2021 Nov 23; 5: 4605-4618.
Gorsi B, Hernandez E, Moore MB, Moriwaki M, Chow CY, Coelho E, Taylor E, Lu C, Walker A, Touraine P, Nelson LM, Cooper AR, Mardis ER, Rajkovic A, Yandell M, Welt CK. Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency. J Clin Endocrinol Metab. 2021 Oct 26;
Gupta A, Liu H, Schieffer KM, Koo SC, Cottrell CE, Mardis ER, Roberts RD, Yeager ND. Targeted Therapy in a Young Adult With a Novel Epithelioid Tumor Driven by a PRRC2B-ALK Fusion. J Natl Compr Canc Netw. 2021 Oct 15; 19: 1116-1121.
Ghonime MG, Saini U, Kelly MC, Roth JC, Wang PY, Chen CY, Miller K, Hernandez-Aguirre I, Kim Y, Mo X, Stanek JR, Cripe T, Mardis E, Cassady KA. Eliciting an immune-mediated antitumor response through oncolytic herpes simplex virus-based shared antigen expression in tumors resistant to viroimmunotherapy. J Immunother Cancer. 2021 Oct; 9:
Koo SC, LaHaye S, Kovari BP, Schieffer KM, Ranalli MA, Aldrink JH, Michalsky MP, Colace S, Miller KE, Bedrosian TA, Leraas KM, Voytovich K, Wheeler G, Brennan P, Fitch J, Kelly BJ, McGrath SD, Miller AR, White P, Magrini V, Wilson RK, Mardis ER, Lauwers GY, Baker PB, Cottrell CE. Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence. Genes Chromosomes Cancer. 2021 Sep; 60: 640-646.
Mardis ER. Genomic prediction of neoantigens: immunogenomics before NGS. Nat Rev Genet. 2021 Sep; 22: 550-551.
Logan SJ, Schieffer KM, Conces MR, Stonerock E, Miller AR, Fitch J, LaHaye S, Voytovich K, McGrath S, Magrini V, White P, Wilson RK, Mardis ER, Cottrell CE, Koo SC. Novel morphologic findings in PLAG1-rearranged soft tissue tumors. Genes Chromosomes Cancer. 2021 Aug; 60: 577-585.
Wedekind MF, Miller KE, Chen CY, Wang PY, Hutzen BJ, Currier MA, Nartker B, Roberts RD, Boon L, Conner J, LaHaye S, Kelly BJ, Gordon D, White P, Mardis ER, Cripe TP. Endogenous retrovirus envelope as a tumor-associated immunotherapeutic target in murine osteosarcoma. iScience. 2021 Jul 23; 24: 102759.
Koboldt DC, Miller KE, Miller AR, Bush JM, McGrath S, Leraas K, Crist E, Fair S, Schwind W, Wijeratne S, Fitch J, Leonard J, Shaikhouni A, Hester ME, Magrini V, Ho ML, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Bedrosian TA. PTEN somatic mutations contribute to spectrum of cerebral overgrowth. Brain. 2021 May 28;
Schieffer KM, Feldman AZ, Kautto EA, McGrath S, Miller AR, Hernandez-Gonzalez ME, LaHaye S, Miller KE, Koboldt DC, Brennan P, Kelly B, Wetzel A, Agarwal V, Shatara M, Conley S, Rodriguez DP, Abu-Arja R, Shaikhkhalil A, Snuderl M, Orr BA, Finlay JL, Osorio DS, Drapeau AI, Leonard JR, Pierson CR, White P, Magrini V, Mardis ER, Wilson RK, Cottrell CE, Boué DR. Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma. Acta Neuropathol Commun. 2021 Apr 7; 9: 61.
Miller KE, Schieffer KM, Grischow O, Rodriguez DP, Cottrell CE, Leonard JR, Finlay JL, Mardis ER. Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation. Cold Spring Harb Mol Case Stud. 2021 Apr; 7:
Cable J, Greenbaum B, Pe'er D, Bollard CM, Bruni S, Griffin ME, Allison JP, Wu CJ, Subudhi SK, Mardis ER, Brentjens R, Sosman JA, Cemerski S, Zavitsanou AM, Proia T, Egeblad M, Nolan G, Goswami S, Spranger S, Mackall CL. Frontiers in cancer immunotherapy-a symposium report. Ann N Y Acad Sci. 2021 Apr; 1489: 30-47.
Collier KA, Asad S, Tallman D, Jenison J, Rajkovic A, Mardis ER, Parsons HA, Tolaney SM, Winer EP, Lin NU, Ha G, Adalsteinsson VA, Stover DG. Association of 17q22 Amplicon Via Cell-Free DNA With Platinum Chemotherapy Response in Metastatic Triple-Negative Breast Cancer. JCO Precis Oncol. 2021; 5:
Prasad RN, Gardner UG, Yaney A, Prevedello DM, Koboldt DC, Thomas DL, Mardis ER, Palmer JD. Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review. Front Oncol. 2021; 11: 721712.
Natarajan L, Pu M, Davies SR, Vickery TL, Nelson SH, Pittman E, Parker BA, Ellis MJ, Flatt SW, Mardis ER, Marinac CR, Pierce JP, Messer K. MiRNAs and long-term breast cancer survival: Evidence from the WHEL Study. Cancer Epidemiol Biomarkers Prev. 2019 Jun 11;
Robinson KM, Yang W, Karol SE, Kornegay N, Jay D, Cheng C, Choi JK, Campana D, Pui CH, Wood B, Borowitz MJ, Gastier-Foster J, Larsen EC, Winick N, Carroll WL, Loh ML, Raetz EA, Hunger SP, Devidas M, Mardis ER, Fulton RS, Relling MV, Jeha S. No evidence that G6PD deficiency affects the efficacy or safety of daunorubicin in acute lymphoblastic leukemia induction therapy. Pediatr Blood Cancer. 2019 Jun; 66: e27681.
Schieffer KM, Varga E, Miller KE, Agarwal V, Koboldt DC, Brennan P, Kelly B, Dave-Wala A, Pierson CR, Finlay JL, AbdelBaki MS, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE. Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma. Eur J Med Genet. 2019 Jun 10; 103701.
Darby CA, Fitch JR, Brennan PJ, Kelly BJ, Bir N, Magrini V, Leonard J, Cottrell CE, Gastier-Foster JM, Wilson RK, Mardis ER, White P, Langmead B, Schatz MC. Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads. iScience. 2019 May 29; 18: 1-10.
Ferreira-Gonzalez A, Mardis ER. Precision oncogenomics. Cold Spring Harb Mol Case Stud. 2019 Apr; 5:
Brady SW, Ma X, Bahrami A, Satas G, Wu G, Newman S, Rusch M, Putnam DK, Mulder HL, Yergeau DA, Edmonson MN, Easton J, Alexandrov LB, Chen X, Mardis ER, Wilson RK, Downing JR, Pappo AS, Raphael BJ, Dyer MA, Zhang J. The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. Mol Cancer Res. 2019 Apr; 17: 895-906.
Yusko E, Vignali M, Wilson RK, Mardis ER, Hodi FS, Horak C, Chang H, Woods DM, Robins H, Weber J. Association of Tumor Microenvironment T-cell Repertoire and Mutational Load with Clinical Outcome after Sequential Checkpoint Blockade in Melanoma. Cancer Immunol Res. 2019 Mar; 7: 458-465.
Haage V, Semtner M, Vidal RO, Hernandez DP, Pong WW, Chen Z, Hambardzumyan D, Magrini V, Ly A, Walker J, Mardis E, Mertins P, Sauer S, Kettenmann H, Gutmann DH. Comprehensive gene expression meta-analysis identifies signature genes that distinguish microglia from peripheral monocytes/macrophages in health and glioma. Acta Neuropathol Commun. 2019 Feb 14; 7: 20.
Hundal J, Kiwala S, Feng YY, Liu CJ, Govindan R, Chapman WC, Uppaluri R, Swamidass SJ, Griffith OL, Mardis ER, Griffith M. Accounting for proximal variants improves neoantigen prediction. Nat Genet. 2019 Jan; 51: 175-179.
Johanns TM, Miller CA, Liu CJ, Perrin RJ, Bender D, Kobayashi DK, Campian JL, Chicoine MR, Dacey RG, Huang J, Fritsch EF, Gillanders WE, Artyomov MN, Mardis ER, Schreiber RD, Dunn GP. Detection of neoantigen-specific T cells following a personalized vaccine in a patient with glioblastoma. Oncoimmunology. 2019; 8: e1561106.
Ainscough BJ, Barnell EK, Ronning P, Campbell KM, Wagner AH, Fehniger TA, Dunn GP, Uppaluri R, Govindan R, Rohan TE, Griffith M, Mardis ER, Swamidass SJ, Griffith OL. A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data. Nat Genet. 2018 Dec; 50: 1735-1743.
McCombie WR, McPherson JD, Mardis ER. Next-Generation Sequencing Technologies. Cold Spring Harb Perspect Med. 2018 Nov 26;
Mardis ER. The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic. Cold Spring Harb Perspect Med. 2018 Nov 5;
Wagner AH, Devarakonda S, Skidmore ZL, Krysiak K, Ramu A, Trani L, Kunisaki J, Masood A, Waqar SN, Spies NC, Morgensztern D, Waligorski J, Ponce J, Fulton RS, Maggi LB Jr, Weber JD, Watson MA, O'Conor CJ, Ritter JH, Olsen RR, Cheng H, Mukhopadhyay A, Can I, Cessna MH, Oliver TG, Mardis ER, Wilson RK, Griffith M, Griffith OL, Govindan R. Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer. Nat Commun. 2018 Sep 17; 9: 3787.
Stewart E, McEvoy J, Wang H, Chen X, Honnell V, Ocarz M, Gordon B, Dapper J, Blankenship K, Yang Y, Li Y, Shaw TI, Cho JH, Wang X, Xu B, Gupta P, Fan Y, Liu Y, Rusch M, Griffiths L, Jeon J, Freeman BB 3rd, Clay MR, Pappo A, Easton J, Shurtleff S, Shelat A, Zhou X, Boggs K, Mulder H, Yergeau D, Bahrami A, Mardis ER, Wilson RK, Zhang J, Peng J, Downing JR, Dyer MA, St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project.. Identification of Therapeutic Targets in Rhabdomyosarcoma through Integrated Genomic, Epigenomic, and Proteomic Analyses. Cancer Cell. 2018 Sep 10; 34: 411-426.e19.
Campbell KM, Lin T, Zolkind P, Barnell EK, Skidmore ZL, Winkler AE, Law JH, Mardis ER, Wartman LD, Adkins DR, Chernock RD, Griffith M, Uppaluri R, Griffith OL. Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity. Cell Rep. 2018 Aug 21; 24: 2167-2178.
Tanioka M, Fan C, Parker JS, Hoadley KA, Hu Z, Li Y, Hyslop TM, Pitcher BN, Soloway MG, Spears PA, Henry LN, Tolaney S, Dang CT, Krop IE, Harris LN, Berry DA, Mardis ER, Winer EP, Hudis CA, Carey LA, Perou CM. Integrated Analysis of RNA and DNA from the Phase III Trial CALGB 40601 Identifies Predictors of Response to Trastuzumab-Based Neoadjuvant Chemotherapy in HER2-Positive Breast Cancer. Clin Cancer Res. 2018 Jul 23;
Rohan TE, Miller CA, Li T, Wang Y, Loudig O, Ginsberg M, Glass A, Mardis E. Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer. Br J Cancer. 2018 Jun; 118: 1662-1664.
Berger MF, Mardis ER. The emerging clinical relevance of genomics in cancer medicine. Nat Rev Clin Oncol. 2018 Jun; 15: 353-365.
Churchman ML, Qian M, Te Kronnie G, Zhang R, Yang W, Zhang H, Lana T, Tedrick P, Baskin R, Verbist K, Peters JL, Devidas M, Larsen E, Moore IM, Gu Z, Qu C, Yoshihara H, Porter SN, Pruett-Miller SM, Wu G, Raetz E, Martin PL, Bowman WP, Winick N, Mardis E, Fulton R, Stanulla M, Evans WE, Relling MV, Pui CH, Hunger SP, Loh ML, Handgretinger R, Nichols KE, Yang JJ, Mullighan CG. Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. Cancer Cell. 2018 May 14; 33: 937-948.e8.
Mardis ER. Clinical and Genomic Insights from Metastatic Cancers. Clin Chem. 2018 May; 64: 766-768.
Siegel MB, He X, Hoadley KA, Hoyle A, Pearce JB, Garrett AL, Kumar S, Moylan VJ, Brady CM, Van Swearingen AE, Marron D, Gupta GP, Thorne LB, Kieran N, Livasy C, Mardis ER, Parker JS, Chen M, Anders CK, Carey LA, Perou CM. Integrated RNA and DNA sequencing reveals early drivers of metastatic breast cancer. J Clin Invest. 2018 Apr 2; 128: 1371-1383.
Miller CA, Dahiya S, Li T, Fulton RS, Smyth MD, Dunn GP, Rubin JB, Mardis ER. Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patient. Cold Spring Harb Mol Case Stud. 2018 Apr; 4:
White BS, Lanc I, O'Neal J, Gupta H, Fulton RS, Schmidt H, Fronick C, Belter EA Jr, Fiala M, King J, Ahmann GJ, DeRome M, Mardis ER, Vij R, DiPersio JF, Levy J, Auclair D, Tomasson MH. A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5. Blood Cancer J. 2018 Mar 21; 8: 35.
Mardis E. Many mutations in one clinical-trial basket. Nature. 2018 Feb 8; 554: 173-175.
View More Publications
Biography
Elaine Mardis, PhD, is co-Executive Director of the Institute for Genomic Medicine at Nationwide Children’s Hospital and the Steve and Cindy Rasmussen Endowed Chair in Genomic Medicine. She also is Professor of Pediatrics at The Ohio State University College of Medicine. Dr. Mardis joined Nationwide Children’s Hospital in 2016. Educated at the University of Oklahoma with a B.S. in Zoology and a Ph.D. in Chemistry and Biochemistry, Dr. Mardis did postgraduate work in industry at BioRad Laboratories. She was a member of the faculty of Washington University School of Medicine from 1993-2016. Dr. Mardis has authored over 350 articles in prestigious peer-reviewed journals and has written book chapters for several medical textbooks. She serves as an associate editor for three peer-reviewed journals (Disease Models and Mechanisms, Molecular Cancer Research, and Annals of Oncology) and is Editor-in-Chief of Molecular Case Studies, published by Cold Spring Harbor Press. Dr. Mardis has given lectures at scientific meetings worldwide, and was awarded the Morton K Schwartz award from the American Association for Clinical Chemistry in 2016. She has been listed since 2013 as one of the most highly cited researchers in the world by Thompson Reuters. Dr. Mardis has been a member of the American Association for Cancer Research (AACR) since 2007, was the program committee chair for the 2018 AACR Annual Meeting, and is the AACR President-elect.
See Elaine R. Mardis’s Curriculum Vitae (CV)
Education
Graduate School
University of Oklahoma
Date Completed: 12/31/1989
Undergraduate School
University of Oklahoma
Date Completed: 12/31/1984
Contact Information
Institute for Genomic Medicine
Call us at: (614) 355-6850
Fax us at: (614) 355-6833
575 Children’s CrossroadColumbus, OH 43215 (map)
Contact Information
Call us at: (614) 355-6850
Fax us at: (614) 355-6833
Institute for Genomic Medicine575 Children’s CrossroadColumbus, OH 43215 (map)
Learn more about Elaine R. Mardis
Contact Information
- Call us at:
- (614) 355-6850
- Fax us at:
- (614) 355-6833
- Institute for Genomic Medicine575 Children’s CrossroadColumbus, OH 43215 (map)
Learn more about Elaine R. Mardis
Research
Publications
Garcia-Recio S, Hinoue T, Wheeler GL, Kelly BJ, Garrido-Castro AC, Pascual T, De Cubas AA, Xia Y, Felsheim BM, McClure MB, Rajkovic A, Karaesmen E, Smith MA, Fan C, Ericsson PIG, Sanders ME, Creighton CJ, Bowen J, Leraas K, Burns RT, Coppens S, Wheless A, Rezk S, Garrett AL, Parker JS, Foy KK, Shen H, Park BH, Krop I, Anders C, Gastier-Foster J, Rimawi MF, Nanda R, Lin NU, Isaacs C, Marcom PK, Storniolo AM, Couch FJ, Chandran U, Davis M, Silverstein J, Ropelewski A, Liu MC, Hilsenbeck SG, Norton L, Richardson AL, Symmans WF, Wolff AC, Davidson NE, Carey LA, Lee AV, Balko JM, Hoadley KA, Laird PW, Mardis ER, King TA, AURORA US Network, Perou CM. Multiomics in primary and metastatic breast tumors from the AURORA US network finds microenvironment and epigenetic drivers of metastasis. Nat Cancer. 2022 Dec 30;
Fernandez-Rozadilla C, Timofeeva M, Chen Z, Law P, Thomas M, Schmit S, Díez-Obrero V, Hsu L, Fernandez-Tajes J, Palles C, Sherwood K, Briggs S, Svinti V, Donnelly K, Farrington S, Blackmur J, Vaughan-Shaw P, Shu XO, Long J, Cai Q, Guo X, Lu Y, Broderick P, Studd J, Huyghe J, Harrison T, Conti D, Dampier C, Devall M, Schumacher F, Melas M, Rennert G, Obón-Santacana M, Martín-Sánchez V, Moratalla-Navarro F, Oh JH, Kim J, Jee SH, Jung KJ, Kweon SS, Shin MH, Shin A, Ahn YO, Kim DH, Oze I, Wen W, Matsuo K, Matsuda K, Tanikawa C, Ren Z, Gao YT, Jia WH, Hopper J, Jenkins M, Win AK, Pai R, Figueiredo J, Haile R, Gallinger S, Woods M, Newcomb P, Duggan D, Cheadle J, Kaplan R, Maughan T, Kerr R, Kerr D, Kirac I, Böhm J, Mecklin LP, Jousilahti P, Knekt P, Aaltonen L, Rissanen H, Pukkala E, Eriksson J, Cajuso T, Hänninen U, Kondelin J, Palin K, Tanskanen T, Renkonen-Sinisalo L, Zanke B, Männistö S, Albanes D, Weinstein S, Ruiz-Narvaez E, Palmer J, Buchanan D, Platz E, Visvanathan K, Ulrich C, Siegel E, Brezina S, Gsur A, Campbell P, Chang-Claude J, Hoffmeister M, Brenner H, Slattery M, Potter J, Tsilidis K, Schulze M, Gunter M, Murphy N, Castells A, Castellví-Bel S, Moreira L, Arndt V, Shcherbina A, Stern M, Pardamean B, Bishop T, Giles G, Southey M, Idos G, McDonnell K, Abu-Ful Z, Greenson J, Shulman K, Lejbkowicz F, Offit K, Su YR, Steinfelder R, Keku T, van Guelpen B, Hudson T, Hampel H, Pearlman R, Berndt S, Hayes R, Martinez ME, Thomas S, Corley D, Pharoah P, Larsson S, Yen Y, Lenz HJ, White E, Li L, Doheny K, Pugh E, Shelford T, Chan A, Cruz-Correa M, Lindblom A, Hunter D, Joshi A, Schafmayer C, Scacheri P, Kundaje A, Nickerson D, Schoen R, Hampe J, Stadler Z, Vodicka P, Vodickova L, Vymetalkova V, Papadopoulos N, Edlund C, Gauderman W, Thomas D, Shibata D, Toland A, Markowitz S, Kim A, Chanock S, van Duijnhoven F, Feskens E, Sakoda L, Gago-Dominguez M, Wolk A, Naccarati A, Pardini B, FitzGerald L, Lee SC, Ogino S, Bien S, Kooperberg C, Li C, Lin Y, Prentice R, Qu C, Bézieau S, Tangen C, Mardis E, Yamaji T, Sawada N, Iwasaki M, Haiman C, Le Marchand L, Wu A, Qu C, McNeil C, Coetzee G, Hayward C, Deary I, Harris S, Theodoratou E, Reid S, Walker M, Ooi LY, Moreno V, Casey G, Gruber S, Tomlinson I, Zheng W, Dunlop M, Houlston R, Peters U. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nat Genet. 2022 Dec 20;
Kalathoor S, Rajendran S, Canella A, Raval R, Cripe TP, Mardis ER, Rajappa P. Myeloid cell heterogeneity in the tumor microenvironment and therapeutic implications for childhood central nervous system (CNS) tumors. J Neuroimmunol. 2022 Dec 5; 374: 578009.
Westfall JJ, Schwind WN, Sran S, Navarro JB, Leonard J, Pindrik JA, Pierson CR, Boué DR, Koboldt DC, Ostendorf AP, Wilson RK, Mardis ER, Miller KE, Bedrosian TA. Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis. Acta Neuropathol Commun. 2022 Nov 21; 10: 168.
Krysiak K, Danos AM, Saliba J, McMichael JF, Coffman AC, Kiwala S, Barnell EK, Sheta L, Grisdale CJ, Kujan L, Pema S, Lever J, Ridd S, Spies NC, Andric V, Chiorean A, Rieke DT, Clark KA, Reisle C, Venigalla AC, Evans M, Jani P, Takahashi H, Suda A, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Kesserwan C, Lamping M, Shen H, Marr AR, Hoang MH, Singhal K, Khanfar M, Li BV, Lin WH, Terraf P, Corson LB, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, King I, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith M, Griffith OL. CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase. Nucleic Acids Res. 2022 Nov 14;
Anderson KC, Cantley LC, Dalla-Favera R, Dang CV, Diaz LA, DuBois RN, Flaherty KT, Greenberg PD, Loda M, Mardis ER, Platz EA, Pollak MN, Schreiber RD, Siu LL, Teicher BA. The AACR Journals: Advancing Progress Toward the AACR's 115-Year Mission. Mol Cancer Ther. 2022 Nov 3; 21: 1625-1631.
Brenner JL, Jyo EM, Mohammad A, Fox P, Jones V, Mardis E, Schedl T, Maine EM. TRIM-NHL protein, NHL-2, modulates cell fate choices in the C. elegans germ line. Dev Biol. 2022 Sep 3; 491: 43-55.
Miller AR, Wijeratne S, McGrath SD, Schieffer KM, Miller KE, Lee K, Mathew M, LaHaye S, Fitch JR, Kelly BJ, White P, Mardis ER, Wilson RK, Cottrell CE, Magrini V. Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity. J Mol Diagn. 2022 Sep 30;
Cripe TP, Hutzen B, Currier MA, Chen CY, Glaspell AM, Sullivan GC, Hurley JM, Deighen MR, Venkataramany AS, Mo X, Stanek JR, Miller AR, Wijeratne S, Magrini V, Mardis ER, Mendell JR, Chandler DS, Wang PY. Leveraging gene therapy to achieve long-term continuous or controllable expression of biotherapeutics. Sci Adv. 2022 Jul 15; 8: eabm1890.
Koo SC, Schieffer KM, Lee K, Gupta A, Pfau RB, Avenarius MR, Stonerock E, LaHaye S, Fitch J, Setty BA, Roberts R, Ranalli M, Conces MR, Bu F, Mardis ER, Cottrell CE. EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors. Genes Chromosomes Cancer. 2022 Jul 7;
Larkin K, Nicolet D, Kelly BJ, Mrózek K, LaHaye S, Miller KE, Wijeratne S, Wheeler GL, Kohlschmidt J, Blachly JS, Mims AS, Walker C, Oakes CC, Orwick S, Boateng I, Buss J, Heyrosa A, Desai H, Carroll AJ, Blum W, Powell BL, Kolitz JE, Moore JO, Mayer RJ, Larson RA, Stone RM, Paskett ED, Byrd JC, Mardis E, Eisfeld AK. High early death rates, treatment resistance, and short survival of Black adolescents and young adults with AML. Blood Adv. 2022 Jul 5;
Skidmore ZL, Kunisaki J, Lin Y, Cotto KC, Barnell EK, Hundal J, Krysiak K, Magrini V, Trani L, Walker JR, Fulton R, Brunt EM, Miller CA, Wilson RK, Mardis ER, Griffith M, Chapman W, Griffith OL. Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers. Cancer Genet. 2022 Jun; 264-265: 90-99.
Bedrosian TA, Miller KE, Grischow OE, Schieffer KM, LaHaye S, Yoon H, Miller AR, Navarro J, Westfall J, Leraas K, Choi S, Williamson R, Fitch J, Kelly BJ, White P, Lee K, McGrath S, Cottrell CE, Magrini V, Leonard J, Pindrik J, Shaikhouni A, Boué DR, Thomas DL, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Koboldt DC. Detection of brain somatic variation in epilepsy-associated developmental lesions. Epilepsia. 2022 Jun 10;
De Faria FW, Schieffer KM, Pierson CR, Boue DR, LaHaye S, Miller KE, Amayiri N, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly B, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE, Rusin J, Finlay JL, Osorio DS. Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review. Genes Chromosomes Cancer. 2022 Jun 18;
Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 May; 3: 522-525.
Miller KE, Mardis ER. Pediatric CNS cancer genomics and immunogenomics. Curr Opin Genet Dev. 2022 May 23; 75: 101918.
Hetzel S, Mattei AL, Kretzmer H, Qu C, Chen X, Fan Y, Wu G, Roberts KG, Luger S, Litzow M, Rowe J, Paietta E, Stock W, Mardis ER, Wilson RK, Downing JR, Mullighan CG, Meissner A. Acute lymphoblastic leukemia displays a distinct highly methylated genome. Nat Cancer. 2022 May 19;
Eteleeb AM, Thunuguntla PK, Gelev KZ, Tang CY, Rozycki EB, Miller A, Lei JT, Jayasinghe RG, Dang HX, White NM, Reis-Filho JS, Mardis ER, Ellis MJ, Ding L, Silva-Fisher JM, Maher CA. LINC00355 regulates p27KIP expression by binding to MENIN to induce proliferation in late-stage relapse breast cancer. NPJ Breast Cancer. 2022 Apr 13; 8: 49.
Kautto EA, Schieffer KM, McGrath S, Miller AR, Hernandez Gonzalez ME, Choi S, Conces MR, Fernandez-Faith E, Ho ML, Lee K, Lillis AP, Pearson GD, Kaler SG, Wilson RK, Mardis ER, Magrini V, Leonard J, Cottrell CE. Expanding the Clinical Phenotype of FGFR1 Internal Tandem Duplication. Cold Spring Harb Mol Case Stud. 2022 Feb 11;
Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.
Baliga S, Matsui J, Klamer B, Cetnar A, Ewing A, Cadieux C, Gupta A, Setty BA, Roberts RD, Olshefski RS, Cripe TP, Scharschmidt TJ, Aldrink J, Mardis E, Yeager ND, Palmer JD. Clinical outcomes and efficacy of stereotactic body radiation therapy in children, adolescents, and young adults with metastatic solid tumors. Br J Radiol. 2022 Feb 10; 20211088.
Borozan I, Zaidi SH, Harrison TA, Phipps AI, Zheng J, Lee S, Trinh QM, Steinfelder RS, Adams J, Banbury BL, Berndt SI, Brezina S, Buchanan DD, Bullman S, Cao Y, Farris AB 3rd, Figueiredo JC, Giannakis M, Heisler LE, Hopper JL, Lin Y, Luo X, Nishihara R, Mardis ER, Papadopoulos N, Qu C, Reid EEG, Thibodeau SN, Harlid S, Um CY, Hsu L, Gsur A, Campbell PT, Gallinger S, Newcomb PA, Ogino S, Sun W, Hudson TJ, Ferretti V, Peters U. Molecular and Pathology Features of Colorectal Tumors and Patient Outcomes Are Associated with Fusobacterium nucleatum and Its Subspecies animalis. Cancer Epidemiol Biomarkers Prev. 2022 Jan; 31: 210-220.
Schaettler MO, Richters MM, Wang AZ, Skidmore ZL, Fisk B, Miller KE, Vickery TL, Kim AH, Chicoine MR, Osbun JW, Leuthardt EC, Dowling JL, Zipfel GJ, Dacey RG, Lu HC, Johanns TM, Griffith OL, Mardis ER, Griffith M, Dunn GP. Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis. Cancer Discov. 2022 Jan; 12: 154-171.
Miller KE, MacDonald JP, Sullivan L, Venkata LPR, Shi J, Yeates KO, Chen S, Alshaikh E, Taylor HG, Hautmann A, Asa N, Cohen DM, Pommering TL, Mardis ER, Yang J, NCH Concussion Research Group.. Salivary miRNA Expression in Children With Persistent Post-concussive Symptoms. Front Public Health. 2022; 10: 890420.
Miller KE, Wheeler G, LaHaye S, Schieffer KM, Cearlock S, Venkata LPR, Bravo AO, Grischow OE, Kelly BJ, White P, Pierson CR, Boué DR, Koo SC, Klawinski D, Ranalli MA, Shaikhouni A, Salloum R, Shatara M, Leonard JR, Wilson RK, Cottrell CE, Mardis ER, Koboldt DC. Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement. Front Oncol. 2022; 12: 932337.
Upadhyay R, Yadav D, Venkatesulu BP, Singh R, Baliga S, Raval RR, Lazow MA, Salloum R, Fouladi M, Mardis ER, Zaorsky NG, Trifiletti DM, Paulino AC, Palmer JD. Risk of secondary malignant neoplasms in children following proton therapy vs. photon therapy for primary CNS tumors: A systematic review and meta-analysis. Front Oncol. 2022; 12: 893855.
Ronsley R, Boué DR, Venkata LPR, Scott S, Shaikhouni A, Jones J, Schieffer KM, Cottrell CE, Mardis ER, Olshefski R, Salloum R, Miller KE. An unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient. Neurooncol Adv. 2022 Jan-Dec; 4: vdac121.
Lek M, Mardis ER. Envisioning the next human genome reference. Dis Model Mech. 2021 Dec 1; 14:
Shatara M, Schieffer KM, Klawinski D, Thomas DL, Pierson CR, Sribnick EA, Jones J, Rodriguez DP, Deeg C, Hamelberg E, LaHaye S, Miller KE, Fitch J, Kelly B, Leraas K, Pfau R, White P, Magrini V, Wilson RK, Mardis ER, Abdelbaki MS, Finlay JL, Boué DR, Cottrell CE, Ghasemi DR, Pajtler KW, Osorio DS. Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas. Acta Neuropathol Commun. 2021 Dec 11; 9: 192.
LaHaye S, Fitch JR, Voytovich KJ, Herman AC, Kelly BJ, Lammi GE, Arbesfeld JA, Wijeratne S, Franklin SJ, Schieffer KM, Bir N, McGrath SD, Miller AR, Wetzel A, Miller KE, Bedrosian TA, Leraas K, Varga EA, Lee K, Gupta A, Setty B, Boué DR, Leonard JR, Finlay JL, Abdelbaki MS, Osorio DS, Koo SC, Koboldt DC, Wagner AH, Eisfeld AK, Mrózek K, Magrini V, Cottrell CE, Mardis ER, Wilson RK, White P. Discovery of clinically relevant fusions in pediatric cancer. BMC Genomics. 2021 Dec 4; 22: 872.
Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7:
Mardis ER. The emergence of cancer genomics in diagnosis and precision medicine. Nat Cancer. 2021 Dec; 2: 1263-1264.
Trikha P, Moseman JE, Thakkar A, Campbell AR, Elmas E, Foltz JA, Chakravarti N, Fitch JR, Mardis ER, Lee DA. Defining the AHR-regulated transcriptome in NK cells reveals gene expression programs relevant to development and function. Blood Adv. 2021 Nov 23; 5: 4605-4618.
Gorsi B, Hernandez E, Moore MB, Moriwaki M, Chow CY, Coelho E, Taylor E, Lu C, Walker A, Touraine P, Nelson LM, Cooper AR, Mardis ER, Rajkovic A, Yandell M, Welt CK. Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency. J Clin Endocrinol Metab. 2021 Oct 26;
Gupta A, Liu H, Schieffer KM, Koo SC, Cottrell CE, Mardis ER, Roberts RD, Yeager ND. Targeted Therapy in a Young Adult With a Novel Epithelioid Tumor Driven by a PRRC2B-ALK Fusion. J Natl Compr Canc Netw. 2021 Oct 15; 19: 1116-1121.
Ghonime MG, Saini U, Kelly MC, Roth JC, Wang PY, Chen CY, Miller K, Hernandez-Aguirre I, Kim Y, Mo X, Stanek JR, Cripe T, Mardis E, Cassady KA. Eliciting an immune-mediated antitumor response through oncolytic herpes simplex virus-based shared antigen expression in tumors resistant to viroimmunotherapy. J Immunother Cancer. 2021 Oct; 9:
Koo SC, LaHaye S, Kovari BP, Schieffer KM, Ranalli MA, Aldrink JH, Michalsky MP, Colace S, Miller KE, Bedrosian TA, Leraas KM, Voytovich K, Wheeler G, Brennan P, Fitch J, Kelly BJ, McGrath SD, Miller AR, White P, Magrini V, Wilson RK, Mardis ER, Lauwers GY, Baker PB, Cottrell CE. Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence. Genes Chromosomes Cancer. 2021 Sep; 60: 640-646.
Mardis ER. Genomic prediction of neoantigens: immunogenomics before NGS. Nat Rev Genet. 2021 Sep; 22: 550-551.
Logan SJ, Schieffer KM, Conces MR, Stonerock E, Miller AR, Fitch J, LaHaye S, Voytovich K, McGrath S, Magrini V, White P, Wilson RK, Mardis ER, Cottrell CE, Koo SC. Novel morphologic findings in PLAG1-rearranged soft tissue tumors. Genes Chromosomes Cancer. 2021 Aug; 60: 577-585.
Wedekind MF, Miller KE, Chen CY, Wang PY, Hutzen BJ, Currier MA, Nartker B, Roberts RD, Boon L, Conner J, LaHaye S, Kelly BJ, Gordon D, White P, Mardis ER, Cripe TP. Endogenous retrovirus envelope as a tumor-associated immunotherapeutic target in murine osteosarcoma. iScience. 2021 Jul 23; 24: 102759.
Koboldt DC, Miller KE, Miller AR, Bush JM, McGrath S, Leraas K, Crist E, Fair S, Schwind W, Wijeratne S, Fitch J, Leonard J, Shaikhouni A, Hester ME, Magrini V, Ho ML, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Bedrosian TA. PTEN somatic mutations contribute to spectrum of cerebral overgrowth. Brain. 2021 May 28;
Schieffer KM, Feldman AZ, Kautto EA, McGrath S, Miller AR, Hernandez-Gonzalez ME, LaHaye S, Miller KE, Koboldt DC, Brennan P, Kelly B, Wetzel A, Agarwal V, Shatara M, Conley S, Rodriguez DP, Abu-Arja R, Shaikhkhalil A, Snuderl M, Orr BA, Finlay JL, Osorio DS, Drapeau AI, Leonard JR, Pierson CR, White P, Magrini V, Mardis ER, Wilson RK, Cottrell CE, Boué DR. Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma. Acta Neuropathol Commun. 2021 Apr 7; 9: 61.
Miller KE, Schieffer KM, Grischow O, Rodriguez DP, Cottrell CE, Leonard JR, Finlay JL, Mardis ER. Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation. Cold Spring Harb Mol Case Stud. 2021 Apr; 7:
Cable J, Greenbaum B, Pe'er D, Bollard CM, Bruni S, Griffin ME, Allison JP, Wu CJ, Subudhi SK, Mardis ER, Brentjens R, Sosman JA, Cemerski S, Zavitsanou AM, Proia T, Egeblad M, Nolan G, Goswami S, Spranger S, Mackall CL. Frontiers in cancer immunotherapy-a symposium report. Ann N Y Acad Sci. 2021 Apr; 1489: 30-47.
Collier KA, Asad S, Tallman D, Jenison J, Rajkovic A, Mardis ER, Parsons HA, Tolaney SM, Winer EP, Lin NU, Ha G, Adalsteinsson VA, Stover DG. Association of 17q22 Amplicon Via Cell-Free DNA With Platinum Chemotherapy Response in Metastatic Triple-Negative Breast Cancer. JCO Precis Oncol. 2021; 5:
Prasad RN, Gardner UG, Yaney A, Prevedello DM, Koboldt DC, Thomas DL, Mardis ER, Palmer JD. Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review. Front Oncol. 2021; 11: 721712.
Natarajan L, Pu M, Davies SR, Vickery TL, Nelson SH, Pittman E, Parker BA, Ellis MJ, Flatt SW, Mardis ER, Marinac CR, Pierce JP, Messer K. MiRNAs and long-term breast cancer survival: Evidence from the WHEL Study. Cancer Epidemiol Biomarkers Prev. 2019 Jun 11;
Robinson KM, Yang W, Karol SE, Kornegay N, Jay D, Cheng C, Choi JK, Campana D, Pui CH, Wood B, Borowitz MJ, Gastier-Foster J, Larsen EC, Winick N, Carroll WL, Loh ML, Raetz EA, Hunger SP, Devidas M, Mardis ER, Fulton RS, Relling MV, Jeha S. No evidence that G6PD deficiency affects the efficacy or safety of daunorubicin in acute lymphoblastic leukemia induction therapy. Pediatr Blood Cancer. 2019 Jun; 66: e27681.
Schieffer KM, Varga E, Miller KE, Agarwal V, Koboldt DC, Brennan P, Kelly B, Dave-Wala A, Pierson CR, Finlay JL, AbdelBaki MS, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE. Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma. Eur J Med Genet. 2019 Jun 10; 103701.
Darby CA, Fitch JR, Brennan PJ, Kelly BJ, Bir N, Magrini V, Leonard J, Cottrell CE, Gastier-Foster JM, Wilson RK, Mardis ER, White P, Langmead B, Schatz MC. Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads. iScience. 2019 May 29; 18: 1-10.
Ferreira-Gonzalez A, Mardis ER. Precision oncogenomics. Cold Spring Harb Mol Case Stud. 2019 Apr; 5:
Brady SW, Ma X, Bahrami A, Satas G, Wu G, Newman S, Rusch M, Putnam DK, Mulder HL, Yergeau DA, Edmonson MN, Easton J, Alexandrov LB, Chen X, Mardis ER, Wilson RK, Downing JR, Pappo AS, Raphael BJ, Dyer MA, Zhang J. The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. Mol Cancer Res. 2019 Apr; 17: 895-906.
Yusko E, Vignali M, Wilson RK, Mardis ER, Hodi FS, Horak C, Chang H, Woods DM, Robins H, Weber J. Association of Tumor Microenvironment T-cell Repertoire and Mutational Load with Clinical Outcome after Sequential Checkpoint Blockade in Melanoma. Cancer Immunol Res. 2019 Mar; 7: 458-465.
Haage V, Semtner M, Vidal RO, Hernandez DP, Pong WW, Chen Z, Hambardzumyan D, Magrini V, Ly A, Walker J, Mardis E, Mertins P, Sauer S, Kettenmann H, Gutmann DH. Comprehensive gene expression meta-analysis identifies signature genes that distinguish microglia from peripheral monocytes/macrophages in health and glioma. Acta Neuropathol Commun. 2019 Feb 14; 7: 20.
Hundal J, Kiwala S, Feng YY, Liu CJ, Govindan R, Chapman WC, Uppaluri R, Swamidass SJ, Griffith OL, Mardis ER, Griffith M. Accounting for proximal variants improves neoantigen prediction. Nat Genet. 2019 Jan; 51: 175-179.
Johanns TM, Miller CA, Liu CJ, Perrin RJ, Bender D, Kobayashi DK, Campian JL, Chicoine MR, Dacey RG, Huang J, Fritsch EF, Gillanders WE, Artyomov MN, Mardis ER, Schreiber RD, Dunn GP. Detection of neoantigen-specific T cells following a personalized vaccine in a patient with glioblastoma. Oncoimmunology. 2019; 8: e1561106.
Ainscough BJ, Barnell EK, Ronning P, Campbell KM, Wagner AH, Fehniger TA, Dunn GP, Uppaluri R, Govindan R, Rohan TE, Griffith M, Mardis ER, Swamidass SJ, Griffith OL. A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data. Nat Genet. 2018 Dec; 50: 1735-1743.
McCombie WR, McPherson JD, Mardis ER. Next-Generation Sequencing Technologies. Cold Spring Harb Perspect Med. 2018 Nov 26;
Mardis ER. The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic. Cold Spring Harb Perspect Med. 2018 Nov 5;
Wagner AH, Devarakonda S, Skidmore ZL, Krysiak K, Ramu A, Trani L, Kunisaki J, Masood A, Waqar SN, Spies NC, Morgensztern D, Waligorski J, Ponce J, Fulton RS, Maggi LB Jr, Weber JD, Watson MA, O'Conor CJ, Ritter JH, Olsen RR, Cheng H, Mukhopadhyay A, Can I, Cessna MH, Oliver TG, Mardis ER, Wilson RK, Griffith M, Griffith OL, Govindan R. Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer. Nat Commun. 2018 Sep 17; 9: 3787.
Stewart E, McEvoy J, Wang H, Chen X, Honnell V, Ocarz M, Gordon B, Dapper J, Blankenship K, Yang Y, Li Y, Shaw TI, Cho JH, Wang X, Xu B, Gupta P, Fan Y, Liu Y, Rusch M, Griffiths L, Jeon J, Freeman BB 3rd, Clay MR, Pappo A, Easton J, Shurtleff S, Shelat A, Zhou X, Boggs K, Mulder H, Yergeau D, Bahrami A, Mardis ER, Wilson RK, Zhang J, Peng J, Downing JR, Dyer MA, St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project.. Identification of Therapeutic Targets in Rhabdomyosarcoma through Integrated Genomic, Epigenomic, and Proteomic Analyses. Cancer Cell. 2018 Sep 10; 34: 411-426.e19.
Campbell KM, Lin T, Zolkind P, Barnell EK, Skidmore ZL, Winkler AE, Law JH, Mardis ER, Wartman LD, Adkins DR, Chernock RD, Griffith M, Uppaluri R, Griffith OL. Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity. Cell Rep. 2018 Aug 21; 24: 2167-2178.
Tanioka M, Fan C, Parker JS, Hoadley KA, Hu Z, Li Y, Hyslop TM, Pitcher BN, Soloway MG, Spears PA, Henry LN, Tolaney S, Dang CT, Krop IE, Harris LN, Berry DA, Mardis ER, Winer EP, Hudis CA, Carey LA, Perou CM. Integrated Analysis of RNA and DNA from the Phase III Trial CALGB 40601 Identifies Predictors of Response to Trastuzumab-Based Neoadjuvant Chemotherapy in HER2-Positive Breast Cancer. Clin Cancer Res. 2018 Jul 23;
Rohan TE, Miller CA, Li T, Wang Y, Loudig O, Ginsberg M, Glass A, Mardis E. Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer. Br J Cancer. 2018 Jun; 118: 1662-1664.
Berger MF, Mardis ER. The emerging clinical relevance of genomics in cancer medicine. Nat Rev Clin Oncol. 2018 Jun; 15: 353-365.
Churchman ML, Qian M, Te Kronnie G, Zhang R, Yang W, Zhang H, Lana T, Tedrick P, Baskin R, Verbist K, Peters JL, Devidas M, Larsen E, Moore IM, Gu Z, Qu C, Yoshihara H, Porter SN, Pruett-Miller SM, Wu G, Raetz E, Martin PL, Bowman WP, Winick N, Mardis E, Fulton R, Stanulla M, Evans WE, Relling MV, Pui CH, Hunger SP, Loh ML, Handgretinger R, Nichols KE, Yang JJ, Mullighan CG. Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. Cancer Cell. 2018 May 14; 33: 937-948.e8.
Mardis ER. Clinical and Genomic Insights from Metastatic Cancers. Clin Chem. 2018 May; 64: 766-768.
Siegel MB, He X, Hoadley KA, Hoyle A, Pearce JB, Garrett AL, Kumar S, Moylan VJ, Brady CM, Van Swearingen AE, Marron D, Gupta GP, Thorne LB, Kieran N, Livasy C, Mardis ER, Parker JS, Chen M, Anders CK, Carey LA, Perou CM. Integrated RNA and DNA sequencing reveals early drivers of metastatic breast cancer. J Clin Invest. 2018 Apr 2; 128: 1371-1383.
Miller CA, Dahiya S, Li T, Fulton RS, Smyth MD, Dunn GP, Rubin JB, Mardis ER. Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patient. Cold Spring Harb Mol Case Stud. 2018 Apr; 4:
White BS, Lanc I, O'Neal J, Gupta H, Fulton RS, Schmidt H, Fronick C, Belter EA Jr, Fiala M, King J, Ahmann GJ, DeRome M, Mardis ER, Vij R, DiPersio JF, Levy J, Auclair D, Tomasson MH. A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5. Blood Cancer J. 2018 Mar 21; 8: 35.
Mardis E. Many mutations in one clinical-trial basket. Nature. 2018 Feb 8; 554: 173-175.
View More Publications
Research
Publications
Garcia-Recio S, Hinoue T, Wheeler GL, Kelly BJ, Garrido-Castro AC, Pascual T, De Cubas AA, Xia Y, Felsheim BM, McClure MB, Rajkovic A, Karaesmen E, Smith MA, Fan C, Ericsson PIG, Sanders ME, Creighton CJ, Bowen J, Leraas K, Burns RT, Coppens S, Wheless A, Rezk S, Garrett AL, Parker JS, Foy KK, Shen H, Park BH, Krop I, Anders C, Gastier-Foster J, Rimawi MF, Nanda R, Lin NU, Isaacs C, Marcom PK, Storniolo AM, Couch FJ, Chandran U, Davis M, Silverstein J, Ropelewski A, Liu MC, Hilsenbeck SG, Norton L, Richardson AL, Symmans WF, Wolff AC, Davidson NE, Carey LA, Lee AV, Balko JM, Hoadley KA, Laird PW, Mardis ER, King TA, AURORA US Network, Perou CM. Multiomics in primary and metastatic breast tumors from the AURORA US network finds microenvironment and epigenetic drivers of metastasis. Nat Cancer. 2022 Dec 30;
Fernandez-Rozadilla C, Timofeeva M, Chen Z, Law P, Thomas M, Schmit S, Díez-Obrero V, Hsu L, Fernandez-Tajes J, Palles C, Sherwood K, Briggs S, Svinti V, Donnelly K, Farrington S, Blackmur J, Vaughan-Shaw P, Shu XO, Long J, Cai Q, Guo X, Lu Y, Broderick P, Studd J, Huyghe J, Harrison T, Conti D, Dampier C, Devall M, Schumacher F, Melas M, Rennert G, Obón-Santacana M, Martín-Sánchez V, Moratalla-Navarro F, Oh JH, Kim J, Jee SH, Jung KJ, Kweon SS, Shin MH, Shin A, Ahn YO, Kim DH, Oze I, Wen W, Matsuo K, Matsuda K, Tanikawa C, Ren Z, Gao YT, Jia WH, Hopper J, Jenkins M, Win AK, Pai R, Figueiredo J, Haile R, Gallinger S, Woods M, Newcomb P, Duggan D, Cheadle J, Kaplan R, Maughan T, Kerr R, Kerr D, Kirac I, Böhm J, Mecklin LP, Jousilahti P, Knekt P, Aaltonen L, Rissanen H, Pukkala E, Eriksson J, Cajuso T, Hänninen U, Kondelin J, Palin K, Tanskanen T, Renkonen-Sinisalo L, Zanke B, Männistö S, Albanes D, Weinstein S, Ruiz-Narvaez E, Palmer J, Buchanan D, Platz E, Visvanathan K, Ulrich C, Siegel E, Brezina S, Gsur A, Campbell P, Chang-Claude J, Hoffmeister M, Brenner H, Slattery M, Potter J, Tsilidis K, Schulze M, Gunter M, Murphy N, Castells A, Castellví-Bel S, Moreira L, Arndt V, Shcherbina A, Stern M, Pardamean B, Bishop T, Giles G, Southey M, Idos G, McDonnell K, Abu-Ful Z, Greenson J, Shulman K, Lejbkowicz F, Offit K, Su YR, Steinfelder R, Keku T, van Guelpen B, Hudson T, Hampel H, Pearlman R, Berndt S, Hayes R, Martinez ME, Thomas S, Corley D, Pharoah P, Larsson S, Yen Y, Lenz HJ, White E, Li L, Doheny K, Pugh E, Shelford T, Chan A, Cruz-Correa M, Lindblom A, Hunter D, Joshi A, Schafmayer C, Scacheri P, Kundaje A, Nickerson D, Schoen R, Hampe J, Stadler Z, Vodicka P, Vodickova L, Vymetalkova V, Papadopoulos N, Edlund C, Gauderman W, Thomas D, Shibata D, Toland A, Markowitz S, Kim A, Chanock S, van Duijnhoven F, Feskens E, Sakoda L, Gago-Dominguez M, Wolk A, Naccarati A, Pardini B, FitzGerald L, Lee SC, Ogino S, Bien S, Kooperberg C, Li C, Lin Y, Prentice R, Qu C, Bézieau S, Tangen C, Mardis E, Yamaji T, Sawada N, Iwasaki M, Haiman C, Le Marchand L, Wu A, Qu C, McNeil C, Coetzee G, Hayward C, Deary I, Harris S, Theodoratou E, Reid S, Walker M, Ooi LY, Moreno V, Casey G, Gruber S, Tomlinson I, Zheng W, Dunlop M, Houlston R, Peters U. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nat Genet. 2022 Dec 20;
Kalathoor S, Rajendran S, Canella A, Raval R, Cripe TP, Mardis ER, Rajappa P. Myeloid cell heterogeneity in the tumor microenvironment and therapeutic implications for childhood central nervous system (CNS) tumors. J Neuroimmunol. 2022 Dec 5; 374: 578009.
Westfall JJ, Schwind WN, Sran S, Navarro JB, Leonard J, Pindrik JA, Pierson CR, Boué DR, Koboldt DC, Ostendorf AP, Wilson RK, Mardis ER, Miller KE, Bedrosian TA. Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis. Acta Neuropathol Commun. 2022 Nov 21; 10: 168.
Krysiak K, Danos AM, Saliba J, McMichael JF, Coffman AC, Kiwala S, Barnell EK, Sheta L, Grisdale CJ, Kujan L, Pema S, Lever J, Ridd S, Spies NC, Andric V, Chiorean A, Rieke DT, Clark KA, Reisle C, Venigalla AC, Evans M, Jani P, Takahashi H, Suda A, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Kesserwan C, Lamping M, Shen H, Marr AR, Hoang MH, Singhal K, Khanfar M, Li BV, Lin WH, Terraf P, Corson LB, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, King I, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith M, Griffith OL. CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase. Nucleic Acids Res. 2022 Nov 14;
Anderson KC, Cantley LC, Dalla-Favera R, Dang CV, Diaz LA, DuBois RN, Flaherty KT, Greenberg PD, Loda M, Mardis ER, Platz EA, Pollak MN, Schreiber RD, Siu LL, Teicher BA. The AACR Journals: Advancing Progress Toward the AACR's 115-Year Mission. Mol Cancer Ther. 2022 Nov 3; 21: 1625-1631.
Brenner JL, Jyo EM, Mohammad A, Fox P, Jones V, Mardis E, Schedl T, Maine EM. TRIM-NHL protein, NHL-2, modulates cell fate choices in the C. elegans germ line. Dev Biol. 2022 Sep 3; 491: 43-55.
Miller AR, Wijeratne S, McGrath SD, Schieffer KM, Miller KE, Lee K, Mathew M, LaHaye S, Fitch JR, Kelly BJ, White P, Mardis ER, Wilson RK, Cottrell CE, Magrini V. Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity. J Mol Diagn. 2022 Sep 30;
Cripe TP, Hutzen B, Currier MA, Chen CY, Glaspell AM, Sullivan GC, Hurley JM, Deighen MR, Venkataramany AS, Mo X, Stanek JR, Miller AR, Wijeratne S, Magrini V, Mardis ER, Mendell JR, Chandler DS, Wang PY. Leveraging gene therapy to achieve long-term continuous or controllable expression of biotherapeutics. Sci Adv. 2022 Jul 15; 8: eabm1890.
Koo SC, Schieffer KM, Lee K, Gupta A, Pfau RB, Avenarius MR, Stonerock E, LaHaye S, Fitch J, Setty BA, Roberts R, Ranalli M, Conces MR, Bu F, Mardis ER, Cottrell CE. EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors. Genes Chromosomes Cancer. 2022 Jul 7;
Larkin K, Nicolet D, Kelly BJ, Mrózek K, LaHaye S, Miller KE, Wijeratne S, Wheeler GL, Kohlschmidt J, Blachly JS, Mims AS, Walker C, Oakes CC, Orwick S, Boateng I, Buss J, Heyrosa A, Desai H, Carroll AJ, Blum W, Powell BL, Kolitz JE, Moore JO, Mayer RJ, Larson RA, Stone RM, Paskett ED, Byrd JC, Mardis E, Eisfeld AK. High early death rates, treatment resistance, and short survival of Black adolescents and young adults with AML. Blood Adv. 2022 Jul 5;
Skidmore ZL, Kunisaki J, Lin Y, Cotto KC, Barnell EK, Hundal J, Krysiak K, Magrini V, Trani L, Walker JR, Fulton R, Brunt EM, Miller CA, Wilson RK, Mardis ER, Griffith M, Chapman W, Griffith OL. Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers. Cancer Genet. 2022 Jun; 264-265: 90-99.
Bedrosian TA, Miller KE, Grischow OE, Schieffer KM, LaHaye S, Yoon H, Miller AR, Navarro J, Westfall J, Leraas K, Choi S, Williamson R, Fitch J, Kelly BJ, White P, Lee K, McGrath S, Cottrell CE, Magrini V, Leonard J, Pindrik J, Shaikhouni A, Boué DR, Thomas DL, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Koboldt DC. Detection of brain somatic variation in epilepsy-associated developmental lesions. Epilepsia. 2022 Jun 10;
De Faria FW, Schieffer KM, Pierson CR, Boue DR, LaHaye S, Miller KE, Amayiri N, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly B, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE, Rusin J, Finlay JL, Osorio DS. Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review. Genes Chromosomes Cancer. 2022 Jun 18;
Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 May; 3: 522-525.
Miller KE, Mardis ER. Pediatric CNS cancer genomics and immunogenomics. Curr Opin Genet Dev. 2022 May 23; 75: 101918.
Hetzel S, Mattei AL, Kretzmer H, Qu C, Chen X, Fan Y, Wu G, Roberts KG, Luger S, Litzow M, Rowe J, Paietta E, Stock W, Mardis ER, Wilson RK, Downing JR, Mullighan CG, Meissner A. Acute lymphoblastic leukemia displays a distinct highly methylated genome. Nat Cancer. 2022 May 19;
Eteleeb AM, Thunuguntla PK, Gelev KZ, Tang CY, Rozycki EB, Miller A, Lei JT, Jayasinghe RG, Dang HX, White NM, Reis-Filho JS, Mardis ER, Ellis MJ, Ding L, Silva-Fisher JM, Maher CA. LINC00355 regulates p27KIP expression by binding to MENIN to induce proliferation in late-stage relapse breast cancer. NPJ Breast Cancer. 2022 Apr 13; 8: 49.
Kautto EA, Schieffer KM, McGrath S, Miller AR, Hernandez Gonzalez ME, Choi S, Conces MR, Fernandez-Faith E, Ho ML, Lee K, Lillis AP, Pearson GD, Kaler SG, Wilson RK, Mardis ER, Magrini V, Leonard J, Cottrell CE. Expanding the Clinical Phenotype of FGFR1 Internal Tandem Duplication. Cold Spring Harb Mol Case Stud. 2022 Feb 11;
Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.
Baliga S, Matsui J, Klamer B, Cetnar A, Ewing A, Cadieux C, Gupta A, Setty BA, Roberts RD, Olshefski RS, Cripe TP, Scharschmidt TJ, Aldrink J, Mardis E, Yeager ND, Palmer JD. Clinical outcomes and efficacy of stereotactic body radiation therapy in children, adolescents, and young adults with metastatic solid tumors. Br J Radiol. 2022 Feb 10; 20211088.
Borozan I, Zaidi SH, Harrison TA, Phipps AI, Zheng J, Lee S, Trinh QM, Steinfelder RS, Adams J, Banbury BL, Berndt SI, Brezina S, Buchanan DD, Bullman S, Cao Y, Farris AB 3rd, Figueiredo JC, Giannakis M, Heisler LE, Hopper JL, Lin Y, Luo X, Nishihara R, Mardis ER, Papadopoulos N, Qu C, Reid EEG, Thibodeau SN, Harlid S, Um CY, Hsu L, Gsur A, Campbell PT, Gallinger S, Newcomb PA, Ogino S, Sun W, Hudson TJ, Ferretti V, Peters U. Molecular and Pathology Features of Colorectal Tumors and Patient Outcomes Are Associated with Fusobacterium nucleatum and Its Subspecies animalis. Cancer Epidemiol Biomarkers Prev. 2022 Jan; 31: 210-220.
Schaettler MO, Richters MM, Wang AZ, Skidmore ZL, Fisk B, Miller KE, Vickery TL, Kim AH, Chicoine MR, Osbun JW, Leuthardt EC, Dowling JL, Zipfel GJ, Dacey RG, Lu HC, Johanns TM, Griffith OL, Mardis ER, Griffith M, Dunn GP. Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis. Cancer Discov. 2022 Jan; 12: 154-171.
Miller KE, MacDonald JP, Sullivan L, Venkata LPR, Shi J, Yeates KO, Chen S, Alshaikh E, Taylor HG, Hautmann A, Asa N, Cohen DM, Pommering TL, Mardis ER, Yang J, NCH Concussion Research Group.. Salivary miRNA Expression in Children With Persistent Post-concussive Symptoms. Front Public Health. 2022; 10: 890420.
Miller KE, Wheeler G, LaHaye S, Schieffer KM, Cearlock S, Venkata LPR, Bravo AO, Grischow OE, Kelly BJ, White P, Pierson CR, Boué DR, Koo SC, Klawinski D, Ranalli MA, Shaikhouni A, Salloum R, Shatara M, Leonard JR, Wilson RK, Cottrell CE, Mardis ER, Koboldt DC. Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement. Front Oncol. 2022; 12: 932337.
Upadhyay R, Yadav D, Venkatesulu BP, Singh R, Baliga S, Raval RR, Lazow MA, Salloum R, Fouladi M, Mardis ER, Zaorsky NG, Trifiletti DM, Paulino AC, Palmer JD. Risk of secondary malignant neoplasms in children following proton therapy vs. photon therapy for primary CNS tumors: A systematic review and meta-analysis. Front Oncol. 2022; 12: 893855.
Ronsley R, Boué DR, Venkata LPR, Scott S, Shaikhouni A, Jones J, Schieffer KM, Cottrell CE, Mardis ER, Olshefski R, Salloum R, Miller KE. An unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient. Neurooncol Adv. 2022 Jan-Dec; 4: vdac121.
Lek M, Mardis ER. Envisioning the next human genome reference. Dis Model Mech. 2021 Dec 1; 14:
Shatara M, Schieffer KM, Klawinski D, Thomas DL, Pierson CR, Sribnick EA, Jones J, Rodriguez DP, Deeg C, Hamelberg E, LaHaye S, Miller KE, Fitch J, Kelly B, Leraas K, Pfau R, White P, Magrini V, Wilson RK, Mardis ER, Abdelbaki MS, Finlay JL, Boué DR, Cottrell CE, Ghasemi DR, Pajtler KW, Osorio DS. Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas. Acta Neuropathol Commun. 2021 Dec 11; 9: 192.
LaHaye S, Fitch JR, Voytovich KJ, Herman AC, Kelly BJ, Lammi GE, Arbesfeld JA, Wijeratne S, Franklin SJ, Schieffer KM, Bir N, McGrath SD, Miller AR, Wetzel A, Miller KE, Bedrosian TA, Leraas K, Varga EA, Lee K, Gupta A, Setty B, Boué DR, Leonard JR, Finlay JL, Abdelbaki MS, Osorio DS, Koo SC, Koboldt DC, Wagner AH, Eisfeld AK, Mrózek K, Magrini V, Cottrell CE, Mardis ER, Wilson RK, White P. Discovery of clinically relevant fusions in pediatric cancer. BMC Genomics. 2021 Dec 4; 22: 872.
Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7:
Mardis ER. The emergence of cancer genomics in diagnosis and precision medicine. Nat Cancer. 2021 Dec; 2: 1263-1264.
Trikha P, Moseman JE, Thakkar A, Campbell AR, Elmas E, Foltz JA, Chakravarti N, Fitch JR, Mardis ER, Lee DA. Defining the AHR-regulated transcriptome in NK cells reveals gene expression programs relevant to development and function. Blood Adv. 2021 Nov 23; 5: 4605-4618.
Gorsi B, Hernandez E, Moore MB, Moriwaki M, Chow CY, Coelho E, Taylor E, Lu C, Walker A, Touraine P, Nelson LM, Cooper AR, Mardis ER, Rajkovic A, Yandell M, Welt CK. Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency. J Clin Endocrinol Metab. 2021 Oct 26;
Gupta A, Liu H, Schieffer KM, Koo SC, Cottrell CE, Mardis ER, Roberts RD, Yeager ND. Targeted Therapy in a Young Adult With a Novel Epithelioid Tumor Driven by a PRRC2B-ALK Fusion. J Natl Compr Canc Netw. 2021 Oct 15; 19: 1116-1121.
Ghonime MG, Saini U, Kelly MC, Roth JC, Wang PY, Chen CY, Miller K, Hernandez-Aguirre I, Kim Y, Mo X, Stanek JR, Cripe T, Mardis E, Cassady KA. Eliciting an immune-mediated antitumor response through oncolytic herpes simplex virus-based shared antigen expression in tumors resistant to viroimmunotherapy. J Immunother Cancer. 2021 Oct; 9:
Koo SC, LaHaye S, Kovari BP, Schieffer KM, Ranalli MA, Aldrink JH, Michalsky MP, Colace S, Miller KE, Bedrosian TA, Leraas KM, Voytovich K, Wheeler G, Brennan P, Fitch J, Kelly BJ, McGrath SD, Miller AR, White P, Magrini V, Wilson RK, Mardis ER, Lauwers GY, Baker PB, Cottrell CE. Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence. Genes Chromosomes Cancer. 2021 Sep; 60: 640-646.
Mardis ER. Genomic prediction of neoantigens: immunogenomics before NGS. Nat Rev Genet. 2021 Sep; 22: 550-551.
Logan SJ, Schieffer KM, Conces MR, Stonerock E, Miller AR, Fitch J, LaHaye S, Voytovich K, McGrath S, Magrini V, White P, Wilson RK, Mardis ER, Cottrell CE, Koo SC. Novel morphologic findings in PLAG1-rearranged soft tissue tumors. Genes Chromosomes Cancer. 2021 Aug; 60: 577-585.
Wedekind MF, Miller KE, Chen CY, Wang PY, Hutzen BJ, Currier MA, Nartker B, Roberts RD, Boon L, Conner J, LaHaye S, Kelly BJ, Gordon D, White P, Mardis ER, Cripe TP. Endogenous retrovirus envelope as a tumor-associated immunotherapeutic target in murine osteosarcoma. iScience. 2021 Jul 23; 24: 102759.
Koboldt DC, Miller KE, Miller AR, Bush JM, McGrath S, Leraas K, Crist E, Fair S, Schwind W, Wijeratne S, Fitch J, Leonard J, Shaikhouni A, Hester ME, Magrini V, Ho ML, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Bedrosian TA. PTEN somatic mutations contribute to spectrum of cerebral overgrowth. Brain. 2021 May 28;
Schieffer KM, Feldman AZ, Kautto EA, McGrath S, Miller AR, Hernandez-Gonzalez ME, LaHaye S, Miller KE, Koboldt DC, Brennan P, Kelly B, Wetzel A, Agarwal V, Shatara M, Conley S, Rodriguez DP, Abu-Arja R, Shaikhkhalil A, Snuderl M, Orr BA, Finlay JL, Osorio DS, Drapeau AI, Leonard JR, Pierson CR, White P, Magrini V, Mardis ER, Wilson RK, Cottrell CE, Boué DR. Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma. Acta Neuropathol Commun. 2021 Apr 7; 9: 61.
Miller KE, Schieffer KM, Grischow O, Rodriguez DP, Cottrell CE, Leonard JR, Finlay JL, Mardis ER. Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation. Cold Spring Harb Mol Case Stud. 2021 Apr; 7:
Cable J, Greenbaum B, Pe'er D, Bollard CM, Bruni S, Griffin ME, Allison JP, Wu CJ, Subudhi SK, Mardis ER, Brentjens R, Sosman JA, Cemerski S, Zavitsanou AM, Proia T, Egeblad M, Nolan G, Goswami S, Spranger S, Mackall CL. Frontiers in cancer immunotherapy-a symposium report. Ann N Y Acad Sci. 2021 Apr; 1489: 30-47.
Collier KA, Asad S, Tallman D, Jenison J, Rajkovic A, Mardis ER, Parsons HA, Tolaney SM, Winer EP, Lin NU, Ha G, Adalsteinsson VA, Stover DG. Association of 17q22 Amplicon Via Cell-Free DNA With Platinum Chemotherapy Response in Metastatic Triple-Negative Breast Cancer. JCO Precis Oncol. 2021; 5:
Prasad RN, Gardner UG, Yaney A, Prevedello DM, Koboldt DC, Thomas DL, Mardis ER, Palmer JD. Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review. Front Oncol. 2021; 11: 721712.
Natarajan L, Pu M, Davies SR, Vickery TL, Nelson SH, Pittman E, Parker BA, Ellis MJ, Flatt SW, Mardis ER, Marinac CR, Pierce JP, Messer K. MiRNAs and long-term breast cancer survival: Evidence from the WHEL Study. Cancer Epidemiol Biomarkers Prev. 2019 Jun 11;
Robinson KM, Yang W, Karol SE, Kornegay N, Jay D, Cheng C, Choi JK, Campana D, Pui CH, Wood B, Borowitz MJ, Gastier-Foster J, Larsen EC, Winick N, Carroll WL, Loh ML, Raetz EA, Hunger SP, Devidas M, Mardis ER, Fulton RS, Relling MV, Jeha S. No evidence that G6PD deficiency affects the efficacy or safety of daunorubicin in acute lymphoblastic leukemia induction therapy. Pediatr Blood Cancer. 2019 Jun; 66: e27681.
Schieffer KM, Varga E, Miller KE, Agarwal V, Koboldt DC, Brennan P, Kelly B, Dave-Wala A, Pierson CR, Finlay JL, AbdelBaki MS, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE. Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma. Eur J Med Genet. 2019 Jun 10; 103701.
Darby CA, Fitch JR, Brennan PJ, Kelly BJ, Bir N, Magrini V, Leonard J, Cottrell CE, Gastier-Foster JM, Wilson RK, Mardis ER, White P, Langmead B, Schatz MC. Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads. iScience. 2019 May 29; 18: 1-10.
Ferreira-Gonzalez A, Mardis ER. Precision oncogenomics. Cold Spring Harb Mol Case Stud. 2019 Apr; 5:
Brady SW, Ma X, Bahrami A, Satas G, Wu G, Newman S, Rusch M, Putnam DK, Mulder HL, Yergeau DA, Edmonson MN, Easton J, Alexandrov LB, Chen X, Mardis ER, Wilson RK, Downing JR, Pappo AS, Raphael BJ, Dyer MA, Zhang J. The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. Mol Cancer Res. 2019 Apr; 17: 895-906.
Yusko E, Vignali M, Wilson RK, Mardis ER, Hodi FS, Horak C, Chang H, Woods DM, Robins H, Weber J. Association of Tumor Microenvironment T-cell Repertoire and Mutational Load with Clinical Outcome after Sequential Checkpoint Blockade in Melanoma. Cancer Immunol Res. 2019 Mar; 7: 458-465.
Haage V, Semtner M, Vidal RO, Hernandez DP, Pong WW, Chen Z, Hambardzumyan D, Magrini V, Ly A, Walker J, Mardis E, Mertins P, Sauer S, Kettenmann H, Gutmann DH. Comprehensive gene expression meta-analysis identifies signature genes that distinguish microglia from peripheral monocytes/macrophages in health and glioma. Acta Neuropathol Commun. 2019 Feb 14; 7: 20.
Hundal J, Kiwala S, Feng YY, Liu CJ, Govindan R, Chapman WC, Uppaluri R, Swamidass SJ, Griffith OL, Mardis ER, Griffith M. Accounting for proximal variants improves neoantigen prediction. Nat Genet. 2019 Jan; 51: 175-179.
Johanns TM, Miller CA, Liu CJ, Perrin RJ, Bender D, Kobayashi DK, Campian JL, Chicoine MR, Dacey RG, Huang J, Fritsch EF, Gillanders WE, Artyomov MN, Mardis ER, Schreiber RD, Dunn GP. Detection of neoantigen-specific T cells following a personalized vaccine in a patient with glioblastoma. Oncoimmunology. 2019; 8: e1561106.
Ainscough BJ, Barnell EK, Ronning P, Campbell KM, Wagner AH, Fehniger TA, Dunn GP, Uppaluri R, Govindan R, Rohan TE, Griffith M, Mardis ER, Swamidass SJ, Griffith OL. A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data. Nat Genet. 2018 Dec; 50: 1735-1743.
McCombie WR, McPherson JD, Mardis ER. Next-Generation Sequencing Technologies. Cold Spring Harb Perspect Med. 2018 Nov 26;
Mardis ER. The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic. Cold Spring Harb Perspect Med. 2018 Nov 5;
Wagner AH, Devarakonda S, Skidmore ZL, Krysiak K, Ramu A, Trani L, Kunisaki J, Masood A, Waqar SN, Spies NC, Morgensztern D, Waligorski J, Ponce J, Fulton RS, Maggi LB Jr, Weber JD, Watson MA, O'Conor CJ, Ritter JH, Olsen RR, Cheng H, Mukhopadhyay A, Can I, Cessna MH, Oliver TG, Mardis ER, Wilson RK, Griffith M, Griffith OL, Govindan R. Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer. Nat Commun. 2018 Sep 17; 9: 3787.
Stewart E, McEvoy J, Wang H, Chen X, Honnell V, Ocarz M, Gordon B, Dapper J, Blankenship K, Yang Y, Li Y, Shaw TI, Cho JH, Wang X, Xu B, Gupta P, Fan Y, Liu Y, Rusch M, Griffiths L, Jeon J, Freeman BB 3rd, Clay MR, Pappo A, Easton J, Shurtleff S, Shelat A, Zhou X, Boggs K, Mulder H, Yergeau D, Bahrami A, Mardis ER, Wilson RK, Zhang J, Peng J, Downing JR, Dyer MA, St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project.. Identification of Therapeutic Targets in Rhabdomyosarcoma through Integrated Genomic, Epigenomic, and Proteomic Analyses. Cancer Cell. 2018 Sep 10; 34: 411-426.e19.
Campbell KM, Lin T, Zolkind P, Barnell EK, Skidmore ZL, Winkler AE, Law JH, Mardis ER, Wartman LD, Adkins DR, Chernock RD, Griffith M, Uppaluri R, Griffith OL. Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity. Cell Rep. 2018 Aug 21; 24: 2167-2178.
Tanioka M, Fan C, Parker JS, Hoadley KA, Hu Z, Li Y, Hyslop TM, Pitcher BN, Soloway MG, Spears PA, Henry LN, Tolaney S, Dang CT, Krop IE, Harris LN, Berry DA, Mardis ER, Winer EP, Hudis CA, Carey LA, Perou CM. Integrated Analysis of RNA and DNA from the Phase III Trial CALGB 40601 Identifies Predictors of Response to Trastuzumab-Based Neoadjuvant Chemotherapy in HER2-Positive Breast Cancer. Clin Cancer Res. 2018 Jul 23;
Rohan TE, Miller CA, Li T, Wang Y, Loudig O, Ginsberg M, Glass A, Mardis E. Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer. Br J Cancer. 2018 Jun; 118: 1662-1664.
Berger MF, Mardis ER. The emerging clinical relevance of genomics in cancer medicine. Nat Rev Clin Oncol. 2018 Jun; 15: 353-365.
Churchman ML, Qian M, Te Kronnie G, Zhang R, Yang W, Zhang H, Lana T, Tedrick P, Baskin R, Verbist K, Peters JL, Devidas M, Larsen E, Moore IM, Gu Z, Qu C, Yoshihara H, Porter SN, Pruett-Miller SM, Wu G, Raetz E, Martin PL, Bowman WP, Winick N, Mardis E, Fulton R, Stanulla M, Evans WE, Relling MV, Pui CH, Hunger SP, Loh ML, Handgretinger R, Nichols KE, Yang JJ, Mullighan CG. Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. Cancer Cell. 2018 May 14; 33: 937-948.e8.
Mardis ER. Clinical and Genomic Insights from Metastatic Cancers. Clin Chem. 2018 May; 64: 766-768.
Siegel MB, He X, Hoadley KA, Hoyle A, Pearce JB, Garrett AL, Kumar S, Moylan VJ, Brady CM, Van Swearingen AE, Marron D, Gupta GP, Thorne LB, Kieran N, Livasy C, Mardis ER, Parker JS, Chen M, Anders CK, Carey LA, Perou CM. Integrated RNA and DNA sequencing reveals early drivers of metastatic breast cancer. J Clin Invest. 2018 Apr 2; 128: 1371-1383.
Miller CA, Dahiya S, Li T, Fulton RS, Smyth MD, Dunn GP, Rubin JB, Mardis ER. Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patient. Cold Spring Harb Mol Case Stud. 2018 Apr; 4:
White BS, Lanc I, O'Neal J, Gupta H, Fulton RS, Schmidt H, Fronick C, Belter EA Jr, Fiala M, King J, Ahmann GJ, DeRome M, Mardis ER, Vij R, DiPersio JF, Levy J, Auclair D, Tomasson MH. A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5. Blood Cancer J. 2018 Mar 21; 8: 35.
Mardis E. Many mutations in one clinical-trial basket. Nature. 2018 Feb 8; 554: 173-175.
View More Publications
Research
Publications
Garcia-Recio S, Hinoue T, Wheeler GL, Kelly BJ, Garrido-Castro AC, Pascual T, De Cubas AA, Xia Y, Felsheim BM, McClure MB, Rajkovic A, Karaesmen E, Smith MA, Fan C, Ericsson PIG, Sanders ME, Creighton CJ, Bowen J, Leraas K, Burns RT, Coppens S, Wheless A, Rezk S, Garrett AL, Parker JS, Foy KK, Shen H, Park BH, Krop I, Anders C, Gastier-Foster J, Rimawi MF, Nanda R, Lin NU, Isaacs C, Marcom PK, Storniolo AM, Couch FJ, Chandran U, Davis M, Silverstein J, Ropelewski A, Liu MC, Hilsenbeck SG, Norton L, Richardson AL, Symmans WF, Wolff AC, Davidson NE, Carey LA, Lee AV, Balko JM, Hoadley KA, Laird PW, Mardis ER, King TA, AURORA US Network, Perou CM. Multiomics in primary and metastatic breast tumors from the AURORA US network finds microenvironment and epigenetic drivers of metastasis. Nat Cancer. 2022 Dec 30;
Fernandez-Rozadilla C, Timofeeva M, Chen Z, Law P, Thomas M, Schmit S, Díez-Obrero V, Hsu L, Fernandez-Tajes J, Palles C, Sherwood K, Briggs S, Svinti V, Donnelly K, Farrington S, Blackmur J, Vaughan-Shaw P, Shu XO, Long J, Cai Q, Guo X, Lu Y, Broderick P, Studd J, Huyghe J, Harrison T, Conti D, Dampier C, Devall M, Schumacher F, Melas M, Rennert G, Obón-Santacana M, Martín-Sánchez V, Moratalla-Navarro F, Oh JH, Kim J, Jee SH, Jung KJ, Kweon SS, Shin MH, Shin A, Ahn YO, Kim DH, Oze I, Wen W, Matsuo K, Matsuda K, Tanikawa C, Ren Z, Gao YT, Jia WH, Hopper J, Jenkins M, Win AK, Pai R, Figueiredo J, Haile R, Gallinger S, Woods M, Newcomb P, Duggan D, Cheadle J, Kaplan R, Maughan T, Kerr R, Kerr D, Kirac I, Böhm J, Mecklin LP, Jousilahti P, Knekt P, Aaltonen L, Rissanen H, Pukkala E, Eriksson J, Cajuso T, Hänninen U, Kondelin J, Palin K, Tanskanen T, Renkonen-Sinisalo L, Zanke B, Männistö S, Albanes D, Weinstein S, Ruiz-Narvaez E, Palmer J, Buchanan D, Platz E, Visvanathan K, Ulrich C, Siegel E, Brezina S, Gsur A, Campbell P, Chang-Claude J, Hoffmeister M, Brenner H, Slattery M, Potter J, Tsilidis K, Schulze M, Gunter M, Murphy N, Castells A, Castellví-Bel S, Moreira L, Arndt V, Shcherbina A, Stern M, Pardamean B, Bishop T, Giles G, Southey M, Idos G, McDonnell K, Abu-Ful Z, Greenson J, Shulman K, Lejbkowicz F, Offit K, Su YR, Steinfelder R, Keku T, van Guelpen B, Hudson T, Hampel H, Pearlman R, Berndt S, Hayes R, Martinez ME, Thomas S, Corley D, Pharoah P, Larsson S, Yen Y, Lenz HJ, White E, Li L, Doheny K, Pugh E, Shelford T, Chan A, Cruz-Correa M, Lindblom A, Hunter D, Joshi A, Schafmayer C, Scacheri P, Kundaje A, Nickerson D, Schoen R, Hampe J, Stadler Z, Vodicka P, Vodickova L, Vymetalkova V, Papadopoulos N, Edlund C, Gauderman W, Thomas D, Shibata D, Toland A, Markowitz S, Kim A, Chanock S, van Duijnhoven F, Feskens E, Sakoda L, Gago-Dominguez M, Wolk A, Naccarati A, Pardini B, FitzGerald L, Lee SC, Ogino S, Bien S, Kooperberg C, Li C, Lin Y, Prentice R, Qu C, Bézieau S, Tangen C, Mardis E, Yamaji T, Sawada N, Iwasaki M, Haiman C, Le Marchand L, Wu A, Qu C, McNeil C, Coetzee G, Hayward C, Deary I, Harris S, Theodoratou E, Reid S, Walker M, Ooi LY, Moreno V, Casey G, Gruber S, Tomlinson I, Zheng W, Dunlop M, Houlston R, Peters U. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nat Genet. 2022 Dec 20;
Kalathoor S, Rajendran S, Canella A, Raval R, Cripe TP, Mardis ER, Rajappa P. Myeloid cell heterogeneity in the tumor microenvironment and therapeutic implications for childhood central nervous system (CNS) tumors. J Neuroimmunol. 2022 Dec 5; 374: 578009.
Westfall JJ, Schwind WN, Sran S, Navarro JB, Leonard J, Pindrik JA, Pierson CR, Boué DR, Koboldt DC, Ostendorf AP, Wilson RK, Mardis ER, Miller KE, Bedrosian TA. Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis. Acta Neuropathol Commun. 2022 Nov 21; 10: 168.
Krysiak K, Danos AM, Saliba J, McMichael JF, Coffman AC, Kiwala S, Barnell EK, Sheta L, Grisdale CJ, Kujan L, Pema S, Lever J, Ridd S, Spies NC, Andric V, Chiorean A, Rieke DT, Clark KA, Reisle C, Venigalla AC, Evans M, Jani P, Takahashi H, Suda A, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Kesserwan C, Lamping M, Shen H, Marr AR, Hoang MH, Singhal K, Khanfar M, Li BV, Lin WH, Terraf P, Corson LB, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, King I, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith M, Griffith OL. CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase. Nucleic Acids Res. 2022 Nov 14;
Anderson KC, Cantley LC, Dalla-Favera R, Dang CV, Diaz LA, DuBois RN, Flaherty KT, Greenberg PD, Loda M, Mardis ER, Platz EA, Pollak MN, Schreiber RD, Siu LL, Teicher BA. The AACR Journals: Advancing Progress Toward the AACR's 115-Year Mission. Mol Cancer Ther. 2022 Nov 3; 21: 1625-1631.
Brenner JL, Jyo EM, Mohammad A, Fox P, Jones V, Mardis E, Schedl T, Maine EM. TRIM-NHL protein, NHL-2, modulates cell fate choices in the C. elegans germ line. Dev Biol. 2022 Sep 3; 491: 43-55.
Miller AR, Wijeratne S, McGrath SD, Schieffer KM, Miller KE, Lee K, Mathew M, LaHaye S, Fitch JR, Kelly BJ, White P, Mardis ER, Wilson RK, Cottrell CE, Magrini V. Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity. J Mol Diagn. 2022 Sep 30;
Cripe TP, Hutzen B, Currier MA, Chen CY, Glaspell AM, Sullivan GC, Hurley JM, Deighen MR, Venkataramany AS, Mo X, Stanek JR, Miller AR, Wijeratne S, Magrini V, Mardis ER, Mendell JR, Chandler DS, Wang PY. Leveraging gene therapy to achieve long-term continuous or controllable expression of biotherapeutics. Sci Adv. 2022 Jul 15; 8: eabm1890.
Koo SC, Schieffer KM, Lee K, Gupta A, Pfau RB, Avenarius MR, Stonerock E, LaHaye S, Fitch J, Setty BA, Roberts R, Ranalli M, Conces MR, Bu F, Mardis ER, Cottrell CE. EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors. Genes Chromosomes Cancer. 2022 Jul 7;
Larkin K, Nicolet D, Kelly BJ, Mrózek K, LaHaye S, Miller KE, Wijeratne S, Wheeler GL, Kohlschmidt J, Blachly JS, Mims AS, Walker C, Oakes CC, Orwick S, Boateng I, Buss J, Heyrosa A, Desai H, Carroll AJ, Blum W, Powell BL, Kolitz JE, Moore JO, Mayer RJ, Larson RA, Stone RM, Paskett ED, Byrd JC, Mardis E, Eisfeld AK. High early death rates, treatment resistance, and short survival of Black adolescents and young adults with AML. Blood Adv. 2022 Jul 5;
Skidmore ZL, Kunisaki J, Lin Y, Cotto KC, Barnell EK, Hundal J, Krysiak K, Magrini V, Trani L, Walker JR, Fulton R, Brunt EM, Miller CA, Wilson RK, Mardis ER, Griffith M, Chapman W, Griffith OL. Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers. Cancer Genet. 2022 Jun; 264-265: 90-99.
Bedrosian TA, Miller KE, Grischow OE, Schieffer KM, LaHaye S, Yoon H, Miller AR, Navarro J, Westfall J, Leraas K, Choi S, Williamson R, Fitch J, Kelly BJ, White P, Lee K, McGrath S, Cottrell CE, Magrini V, Leonard J, Pindrik J, Shaikhouni A, Boué DR, Thomas DL, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Koboldt DC. Detection of brain somatic variation in epilepsy-associated developmental lesions. Epilepsia. 2022 Jun 10;
De Faria FW, Schieffer KM, Pierson CR, Boue DR, LaHaye S, Miller KE, Amayiri N, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly B, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE, Rusin J, Finlay JL, Osorio DS. Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review. Genes Chromosomes Cancer. 2022 Jun 18;
Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 May; 3: 522-525.
Miller KE, Mardis ER. Pediatric CNS cancer genomics and immunogenomics. Curr Opin Genet Dev. 2022 May 23; 75: 101918.
Hetzel S, Mattei AL, Kretzmer H, Qu C, Chen X, Fan Y, Wu G, Roberts KG, Luger S, Litzow M, Rowe J, Paietta E, Stock W, Mardis ER, Wilson RK, Downing JR, Mullighan CG, Meissner A. Acute lymphoblastic leukemia displays a distinct highly methylated genome. Nat Cancer. 2022 May 19;
Eteleeb AM, Thunuguntla PK, Gelev KZ, Tang CY, Rozycki EB, Miller A, Lei JT, Jayasinghe RG, Dang HX, White NM, Reis-Filho JS, Mardis ER, Ellis MJ, Ding L, Silva-Fisher JM, Maher CA. LINC00355 regulates p27KIP expression by binding to MENIN to induce proliferation in late-stage relapse breast cancer. NPJ Breast Cancer. 2022 Apr 13; 8: 49.
Kautto EA, Schieffer KM, McGrath S, Miller AR, Hernandez Gonzalez ME, Choi S, Conces MR, Fernandez-Faith E, Ho ML, Lee K, Lillis AP, Pearson GD, Kaler SG, Wilson RK, Mardis ER, Magrini V, Leonard J, Cottrell CE. Expanding the Clinical Phenotype of FGFR1 Internal Tandem Duplication. Cold Spring Harb Mol Case Stud. 2022 Feb 11;
Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.
Baliga S, Matsui J, Klamer B, Cetnar A, Ewing A, Cadieux C, Gupta A, Setty BA, Roberts RD, Olshefski RS, Cripe TP, Scharschmidt TJ, Aldrink J, Mardis E, Yeager ND, Palmer JD. Clinical outcomes and efficacy of stereotactic body radiation therapy in children, adolescents, and young adults with metastatic solid tumors. Br J Radiol. 2022 Feb 10; 20211088.
Borozan I, Zaidi SH, Harrison TA, Phipps AI, Zheng J, Lee S, Trinh QM, Steinfelder RS, Adams J, Banbury BL, Berndt SI, Brezina S, Buchanan DD, Bullman S, Cao Y, Farris AB 3rd, Figueiredo JC, Giannakis M, Heisler LE, Hopper JL, Lin Y, Luo X, Nishihara R, Mardis ER, Papadopoulos N, Qu C, Reid EEG, Thibodeau SN, Harlid S, Um CY, Hsu L, Gsur A, Campbell PT, Gallinger S, Newcomb PA, Ogino S, Sun W, Hudson TJ, Ferretti V, Peters U. Molecular and Pathology Features of Colorectal Tumors and Patient Outcomes Are Associated with Fusobacterium nucleatum and Its Subspecies animalis. Cancer Epidemiol Biomarkers Prev. 2022 Jan; 31: 210-220.
Schaettler MO, Richters MM, Wang AZ, Skidmore ZL, Fisk B, Miller KE, Vickery TL, Kim AH, Chicoine MR, Osbun JW, Leuthardt EC, Dowling JL, Zipfel GJ, Dacey RG, Lu HC, Johanns TM, Griffith OL, Mardis ER, Griffith M, Dunn GP. Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis. Cancer Discov. 2022 Jan; 12: 154-171.
Miller KE, MacDonald JP, Sullivan L, Venkata LPR, Shi J, Yeates KO, Chen S, Alshaikh E, Taylor HG, Hautmann A, Asa N, Cohen DM, Pommering TL, Mardis ER, Yang J, NCH Concussion Research Group.. Salivary miRNA Expression in Children With Persistent Post-concussive Symptoms. Front Public Health. 2022; 10: 890420.
Miller KE, Wheeler G, LaHaye S, Schieffer KM, Cearlock S, Venkata LPR, Bravo AO, Grischow OE, Kelly BJ, White P, Pierson CR, Boué DR, Koo SC, Klawinski D, Ranalli MA, Shaikhouni A, Salloum R, Shatara M, Leonard JR, Wilson RK, Cottrell CE, Mardis ER, Koboldt DC. Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement. Front Oncol. 2022; 12: 932337.
Upadhyay R, Yadav D, Venkatesulu BP, Singh R, Baliga S, Raval RR, Lazow MA, Salloum R, Fouladi M, Mardis ER, Zaorsky NG, Trifiletti DM, Paulino AC, Palmer JD. Risk of secondary malignant neoplasms in children following proton therapy vs. photon therapy for primary CNS tumors: A systematic review and meta-analysis. Front Oncol. 2022; 12: 893855.
Ronsley R, Boué DR, Venkata LPR, Scott S, Shaikhouni A, Jones J, Schieffer KM, Cottrell CE, Mardis ER, Olshefski R, Salloum R, Miller KE. An unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient. Neurooncol Adv. 2022 Jan-Dec; 4: vdac121.
Lek M, Mardis ER. Envisioning the next human genome reference. Dis Model Mech. 2021 Dec 1; 14:
Shatara M, Schieffer KM, Klawinski D, Thomas DL, Pierson CR, Sribnick EA, Jones J, Rodriguez DP, Deeg C, Hamelberg E, LaHaye S, Miller KE, Fitch J, Kelly B, Leraas K, Pfau R, White P, Magrini V, Wilson RK, Mardis ER, Abdelbaki MS, Finlay JL, Boué DR, Cottrell CE, Ghasemi DR, Pajtler KW, Osorio DS. Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas. Acta Neuropathol Commun. 2021 Dec 11; 9: 192.
LaHaye S, Fitch JR, Voytovich KJ, Herman AC, Kelly BJ, Lammi GE, Arbesfeld JA, Wijeratne S, Franklin SJ, Schieffer KM, Bir N, McGrath SD, Miller AR, Wetzel A, Miller KE, Bedrosian TA, Leraas K, Varga EA, Lee K, Gupta A, Setty B, Boué DR, Leonard JR, Finlay JL, Abdelbaki MS, Osorio DS, Koo SC, Koboldt DC, Wagner AH, Eisfeld AK, Mrózek K, Magrini V, Cottrell CE, Mardis ER, Wilson RK, White P. Discovery of clinically relevant fusions in pediatric cancer. BMC Genomics. 2021 Dec 4; 22: 872.
Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7:
Mardis ER. The emergence of cancer genomics in diagnosis and precision medicine. Nat Cancer. 2021 Dec; 2: 1263-1264.
Trikha P, Moseman JE, Thakkar A, Campbell AR, Elmas E, Foltz JA, Chakravarti N, Fitch JR, Mardis ER, Lee DA. Defining the AHR-regulated transcriptome in NK cells reveals gene expression programs relevant to development and function. Blood Adv. 2021 Nov 23; 5: 4605-4618.
Gorsi B, Hernandez E, Moore MB, Moriwaki M, Chow CY, Coelho E, Taylor E, Lu C, Walker A, Touraine P, Nelson LM, Cooper AR, Mardis ER, Rajkovic A, Yandell M, Welt CK. Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency. J Clin Endocrinol Metab. 2021 Oct 26;
Gupta A, Liu H, Schieffer KM, Koo SC, Cottrell CE, Mardis ER, Roberts RD, Yeager ND. Targeted Therapy in a Young Adult With a Novel Epithelioid Tumor Driven by a PRRC2B-ALK Fusion. J Natl Compr Canc Netw. 2021 Oct 15; 19: 1116-1121.
Ghonime MG, Saini U, Kelly MC, Roth JC, Wang PY, Chen CY, Miller K, Hernandez-Aguirre I, Kim Y, Mo X, Stanek JR, Cripe T, Mardis E, Cassady KA. Eliciting an immune-mediated antitumor response through oncolytic herpes simplex virus-based shared antigen expression in tumors resistant to viroimmunotherapy. J Immunother Cancer. 2021 Oct; 9:
Koo SC, LaHaye S, Kovari BP, Schieffer KM, Ranalli MA, Aldrink JH, Michalsky MP, Colace S, Miller KE, Bedrosian TA, Leraas KM, Voytovich K, Wheeler G, Brennan P, Fitch J, Kelly BJ, McGrath SD, Miller AR, White P, Magrini V, Wilson RK, Mardis ER, Lauwers GY, Baker PB, Cottrell CE. Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence. Genes Chromosomes Cancer. 2021 Sep; 60: 640-646.
Mardis ER. Genomic prediction of neoantigens: immunogenomics before NGS. Nat Rev Genet. 2021 Sep; 22: 550-551.
Logan SJ, Schieffer KM, Conces MR, Stonerock E, Miller AR, Fitch J, LaHaye S, Voytovich K, McGrath S, Magrini V, White P, Wilson RK, Mardis ER, Cottrell CE, Koo SC. Novel morphologic findings in PLAG1-rearranged soft tissue tumors. Genes Chromosomes Cancer. 2021 Aug; 60: 577-585.
Wedekind MF, Miller KE, Chen CY, Wang PY, Hutzen BJ, Currier MA, Nartker B, Roberts RD, Boon L, Conner J, LaHaye S, Kelly BJ, Gordon D, White P, Mardis ER, Cripe TP. Endogenous retrovirus envelope as a tumor-associated immunotherapeutic target in murine osteosarcoma. iScience. 2021 Jul 23; 24: 102759.
Koboldt DC, Miller KE, Miller AR, Bush JM, McGrath S, Leraas K, Crist E, Fair S, Schwind W, Wijeratne S, Fitch J, Leonard J, Shaikhouni A, Hester ME, Magrini V, Ho ML, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Bedrosian TA. PTEN somatic mutations contribute to spectrum of cerebral overgrowth. Brain. 2021 May 28;
Schieffer KM, Feldman AZ, Kautto EA, McGrath S, Miller AR, Hernandez-Gonzalez ME, LaHaye S, Miller KE, Koboldt DC, Brennan P, Kelly B, Wetzel A, Agarwal V, Shatara M, Conley S, Rodriguez DP, Abu-Arja R, Shaikhkhalil A, Snuderl M, Orr BA, Finlay JL, Osorio DS, Drapeau AI, Leonard JR, Pierson CR, White P, Magrini V, Mardis ER, Wilson RK, Cottrell CE, Boué DR. Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma. Acta Neuropathol Commun. 2021 Apr 7; 9: 61.
Miller KE, Schieffer KM, Grischow O, Rodriguez DP, Cottrell CE, Leonard JR, Finlay JL, Mardis ER. Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation. Cold Spring Harb Mol Case Stud. 2021 Apr; 7:
Cable J, Greenbaum B, Pe'er D, Bollard CM, Bruni S, Griffin ME, Allison JP, Wu CJ, Subudhi SK, Mardis ER, Brentjens R, Sosman JA, Cemerski S, Zavitsanou AM, Proia T, Egeblad M, Nolan G, Goswami S, Spranger S, Mackall CL. Frontiers in cancer immunotherapy-a symposium report. Ann N Y Acad Sci. 2021 Apr; 1489: 30-47.
Collier KA, Asad S, Tallman D, Jenison J, Rajkovic A, Mardis ER, Parsons HA, Tolaney SM, Winer EP, Lin NU, Ha G, Adalsteinsson VA, Stover DG. Association of 17q22 Amplicon Via Cell-Free DNA With Platinum Chemotherapy Response in Metastatic Triple-Negative Breast Cancer. JCO Precis Oncol. 2021; 5:
Prasad RN, Gardner UG, Yaney A, Prevedello DM, Koboldt DC, Thomas DL, Mardis ER, Palmer JD. Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review. Front Oncol. 2021; 11: 721712.
Natarajan L, Pu M, Davies SR, Vickery TL, Nelson SH, Pittman E, Parker BA, Ellis MJ, Flatt SW, Mardis ER, Marinac CR, Pierce JP, Messer K. MiRNAs and long-term breast cancer survival: Evidence from the WHEL Study. Cancer Epidemiol Biomarkers Prev. 2019 Jun 11;
Robinson KM, Yang W, Karol SE, Kornegay N, Jay D, Cheng C, Choi JK, Campana D, Pui CH, Wood B, Borowitz MJ, Gastier-Foster J, Larsen EC, Winick N, Carroll WL, Loh ML, Raetz EA, Hunger SP, Devidas M, Mardis ER, Fulton RS, Relling MV, Jeha S. No evidence that G6PD deficiency affects the efficacy or safety of daunorubicin in acute lymphoblastic leukemia induction therapy. Pediatr Blood Cancer. 2019 Jun; 66: e27681.
Schieffer KM, Varga E, Miller KE, Agarwal V, Koboldt DC, Brennan P, Kelly B, Dave-Wala A, Pierson CR, Finlay JL, AbdelBaki MS, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE. Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma. Eur J Med Genet. 2019 Jun 10; 103701.
Darby CA, Fitch JR, Brennan PJ, Kelly BJ, Bir N, Magrini V, Leonard J, Cottrell CE, Gastier-Foster JM, Wilson RK, Mardis ER, White P, Langmead B, Schatz MC. Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads. iScience. 2019 May 29; 18: 1-10.
Ferreira-Gonzalez A, Mardis ER. Precision oncogenomics. Cold Spring Harb Mol Case Stud. 2019 Apr; 5:
Brady SW, Ma X, Bahrami A, Satas G, Wu G, Newman S, Rusch M, Putnam DK, Mulder HL, Yergeau DA, Edmonson MN, Easton J, Alexandrov LB, Chen X, Mardis ER, Wilson RK, Downing JR, Pappo AS, Raphael BJ, Dyer MA, Zhang J. The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. Mol Cancer Res. 2019 Apr; 17: 895-906.
Yusko E, Vignali M, Wilson RK, Mardis ER, Hodi FS, Horak C, Chang H, Woods DM, Robins H, Weber J. Association of Tumor Microenvironment T-cell Repertoire and Mutational Load with Clinical Outcome after Sequential Checkpoint Blockade in Melanoma. Cancer Immunol Res. 2019 Mar; 7: 458-465.
Haage V, Semtner M, Vidal RO, Hernandez DP, Pong WW, Chen Z, Hambardzumyan D, Magrini V, Ly A, Walker J, Mardis E, Mertins P, Sauer S, Kettenmann H, Gutmann DH. Comprehensive gene expression meta-analysis identifies signature genes that distinguish microglia from peripheral monocytes/macrophages in health and glioma. Acta Neuropathol Commun. 2019 Feb 14; 7: 20.
Hundal J, Kiwala S, Feng YY, Liu CJ, Govindan R, Chapman WC, Uppaluri R, Swamidass SJ, Griffith OL, Mardis ER, Griffith M. Accounting for proximal variants improves neoantigen prediction. Nat Genet. 2019 Jan; 51: 175-179.
Johanns TM, Miller CA, Liu CJ, Perrin RJ, Bender D, Kobayashi DK, Campian JL, Chicoine MR, Dacey RG, Huang J, Fritsch EF, Gillanders WE, Artyomov MN, Mardis ER, Schreiber RD, Dunn GP. Detection of neoantigen-specific T cells following a personalized vaccine in a patient with glioblastoma. Oncoimmunology. 2019; 8: e1561106.
Ainscough BJ, Barnell EK, Ronning P, Campbell KM, Wagner AH, Fehniger TA, Dunn GP, Uppaluri R, Govindan R, Rohan TE, Griffith M, Mardis ER, Swamidass SJ, Griffith OL. A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data. Nat Genet. 2018 Dec; 50: 1735-1743.
McCombie WR, McPherson JD, Mardis ER. Next-Generation Sequencing Technologies. Cold Spring Harb Perspect Med. 2018 Nov 26;
Mardis ER. The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic. Cold Spring Harb Perspect Med. 2018 Nov 5;
Wagner AH, Devarakonda S, Skidmore ZL, Krysiak K, Ramu A, Trani L, Kunisaki J, Masood A, Waqar SN, Spies NC, Morgensztern D, Waligorski J, Ponce J, Fulton RS, Maggi LB Jr, Weber JD, Watson MA, O'Conor CJ, Ritter JH, Olsen RR, Cheng H, Mukhopadhyay A, Can I, Cessna MH, Oliver TG, Mardis ER, Wilson RK, Griffith M, Griffith OL, Govindan R. Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer. Nat Commun. 2018 Sep 17; 9: 3787.
Stewart E, McEvoy J, Wang H, Chen X, Honnell V, Ocarz M, Gordon B, Dapper J, Blankenship K, Yang Y, Li Y, Shaw TI, Cho JH, Wang X, Xu B, Gupta P, Fan Y, Liu Y, Rusch M, Griffiths L, Jeon J, Freeman BB 3rd, Clay MR, Pappo A, Easton J, Shurtleff S, Shelat A, Zhou X, Boggs K, Mulder H, Yergeau D, Bahrami A, Mardis ER, Wilson RK, Zhang J, Peng J, Downing JR, Dyer MA, St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project.. Identification of Therapeutic Targets in Rhabdomyosarcoma through Integrated Genomic, Epigenomic, and Proteomic Analyses. Cancer Cell. 2018 Sep 10; 34: 411-426.e19.
Campbell KM, Lin T, Zolkind P, Barnell EK, Skidmore ZL, Winkler AE, Law JH, Mardis ER, Wartman LD, Adkins DR, Chernock RD, Griffith M, Uppaluri R, Griffith OL. Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity. Cell Rep. 2018 Aug 21; 24: 2167-2178.
Tanioka M, Fan C, Parker JS, Hoadley KA, Hu Z, Li Y, Hyslop TM, Pitcher BN, Soloway MG, Spears PA, Henry LN, Tolaney S, Dang CT, Krop IE, Harris LN, Berry DA, Mardis ER, Winer EP, Hudis CA, Carey LA, Perou CM. Integrated Analysis of RNA and DNA from the Phase III Trial CALGB 40601 Identifies Predictors of Response to Trastuzumab-Based Neoadjuvant Chemotherapy in HER2-Positive Breast Cancer. Clin Cancer Res. 2018 Jul 23;
Rohan TE, Miller CA, Li T, Wang Y, Loudig O, Ginsberg M, Glass A, Mardis E. Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer. Br J Cancer. 2018 Jun; 118: 1662-1664.
Berger MF, Mardis ER. The emerging clinical relevance of genomics in cancer medicine. Nat Rev Clin Oncol. 2018 Jun; 15: 353-365.
Churchman ML, Qian M, Te Kronnie G, Zhang R, Yang W, Zhang H, Lana T, Tedrick P, Baskin R, Verbist K, Peters JL, Devidas M, Larsen E, Moore IM, Gu Z, Qu C, Yoshihara H, Porter SN, Pruett-Miller SM, Wu G, Raetz E, Martin PL, Bowman WP, Winick N, Mardis E, Fulton R, Stanulla M, Evans WE, Relling MV, Pui CH, Hunger SP, Loh ML, Handgretinger R, Nichols KE, Yang JJ, Mullighan CG. Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. Cancer Cell. 2018 May 14; 33: 937-948.e8.
Mardis ER. Clinical and Genomic Insights from Metastatic Cancers. Clin Chem. 2018 May; 64: 766-768.
Siegel MB, He X, Hoadley KA, Hoyle A, Pearce JB, Garrett AL, Kumar S, Moylan VJ, Brady CM, Van Swearingen AE, Marron D, Gupta GP, Thorne LB, Kieran N, Livasy C, Mardis ER, Parker JS, Chen M, Anders CK, Carey LA, Perou CM. Integrated RNA and DNA sequencing reveals early drivers of metastatic breast cancer. J Clin Invest. 2018 Apr 2; 128: 1371-1383.
Miller CA, Dahiya S, Li T, Fulton RS, Smyth MD, Dunn GP, Rubin JB, Mardis ER. Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patient. Cold Spring Harb Mol Case Stud. 2018 Apr; 4:
White BS, Lanc I, O'Neal J, Gupta H, Fulton RS, Schmidt H, Fronick C, Belter EA Jr, Fiala M, King J, Ahmann GJ, DeRome M, Mardis ER, Vij R, DiPersio JF, Levy J, Auclair D, Tomasson MH. A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5. Blood Cancer J. 2018 Mar 21; 8: 35.
Mardis E. Many mutations in one clinical-trial basket. Nature. 2018 Feb 8; 554: 173-175.
View More Publications
Publications
Garcia-Recio S, Hinoue T, Wheeler GL, Kelly BJ, Garrido-Castro AC, Pascual T, De Cubas AA, Xia Y, Felsheim BM, McClure MB, Rajkovic A, Karaesmen E, Smith MA, Fan C, Ericsson PIG, Sanders ME, Creighton CJ, Bowen J, Leraas K, Burns RT, Coppens S, Wheless A, Rezk S, Garrett AL, Parker JS, Foy KK, Shen H, Park BH, Krop I, Anders C, Gastier-Foster J, Rimawi MF, Nanda R, Lin NU, Isaacs C, Marcom PK, Storniolo AM, Couch FJ, Chandran U, Davis M, Silverstein J, Ropelewski A, Liu MC, Hilsenbeck SG, Norton L, Richardson AL, Symmans WF, Wolff AC, Davidson NE, Carey LA, Lee AV, Balko JM, Hoadley KA, Laird PW, Mardis ER, King TA, AURORA US Network, Perou CM. Multiomics in primary and metastatic breast tumors from the AURORA US network finds microenvironment and epigenetic drivers of metastasis. Nat Cancer. 2022 Dec 30;
Fernandez-Rozadilla C, Timofeeva M, Chen Z, Law P, Thomas M, Schmit S, Díez-Obrero V, Hsu L, Fernandez-Tajes J, Palles C, Sherwood K, Briggs S, Svinti V, Donnelly K, Farrington S, Blackmur J, Vaughan-Shaw P, Shu XO, Long J, Cai Q, Guo X, Lu Y, Broderick P, Studd J, Huyghe J, Harrison T, Conti D, Dampier C, Devall M, Schumacher F, Melas M, Rennert G, Obón-Santacana M, Martín-Sánchez V, Moratalla-Navarro F, Oh JH, Kim J, Jee SH, Jung KJ, Kweon SS, Shin MH, Shin A, Ahn YO, Kim DH, Oze I, Wen W, Matsuo K, Matsuda K, Tanikawa C, Ren Z, Gao YT, Jia WH, Hopper J, Jenkins M, Win AK, Pai R, Figueiredo J, Haile R, Gallinger S, Woods M, Newcomb P, Duggan D, Cheadle J, Kaplan R, Maughan T, Kerr R, Kerr D, Kirac I, Böhm J, Mecklin LP, Jousilahti P, Knekt P, Aaltonen L, Rissanen H, Pukkala E, Eriksson J, Cajuso T, Hänninen U, Kondelin J, Palin K, Tanskanen T, Renkonen-Sinisalo L, Zanke B, Männistö S, Albanes D, Weinstein S, Ruiz-Narvaez E, Palmer J, Buchanan D, Platz E, Visvanathan K, Ulrich C, Siegel E, Brezina S, Gsur A, Campbell P, Chang-Claude J, Hoffmeister M, Brenner H, Slattery M, Potter J, Tsilidis K, Schulze M, Gunter M, Murphy N, Castells A, Castellví-Bel S, Moreira L, Arndt V, Shcherbina A, Stern M, Pardamean B, Bishop T, Giles G, Southey M, Idos G, McDonnell K, Abu-Ful Z, Greenson J, Shulman K, Lejbkowicz F, Offit K, Su YR, Steinfelder R, Keku T, van Guelpen B, Hudson T, Hampel H, Pearlman R, Berndt S, Hayes R, Martinez ME, Thomas S, Corley D, Pharoah P, Larsson S, Yen Y, Lenz HJ, White E, Li L, Doheny K, Pugh E, Shelford T, Chan A, Cruz-Correa M, Lindblom A, Hunter D, Joshi A, Schafmayer C, Scacheri P, Kundaje A, Nickerson D, Schoen R, Hampe J, Stadler Z, Vodicka P, Vodickova L, Vymetalkova V, Papadopoulos N, Edlund C, Gauderman W, Thomas D, Shibata D, Toland A, Markowitz S, Kim A, Chanock S, van Duijnhoven F, Feskens E, Sakoda L, Gago-Dominguez M, Wolk A, Naccarati A, Pardini B, FitzGerald L, Lee SC, Ogino S, Bien S, Kooperberg C, Li C, Lin Y, Prentice R, Qu C, Bézieau S, Tangen C, Mardis E, Yamaji T, Sawada N, Iwasaki M, Haiman C, Le Marchand L, Wu A, Qu C, McNeil C, Coetzee G, Hayward C, Deary I, Harris S, Theodoratou E, Reid S, Walker M, Ooi LY, Moreno V, Casey G, Gruber S, Tomlinson I, Zheng W, Dunlop M, Houlston R, Peters U. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nat Genet. 2022 Dec 20;
Kalathoor S, Rajendran S, Canella A, Raval R, Cripe TP, Mardis ER, Rajappa P. Myeloid cell heterogeneity in the tumor microenvironment and therapeutic implications for childhood central nervous system (CNS) tumors. J Neuroimmunol. 2022 Dec 5; 374: 578009.
Westfall JJ, Schwind WN, Sran S, Navarro JB, Leonard J, Pindrik JA, Pierson CR, Boué DR, Koboldt DC, Ostendorf AP, Wilson RK, Mardis ER, Miller KE, Bedrosian TA. Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis. Acta Neuropathol Commun. 2022 Nov 21; 10: 168.
Krysiak K, Danos AM, Saliba J, McMichael JF, Coffman AC, Kiwala S, Barnell EK, Sheta L, Grisdale CJ, Kujan L, Pema S, Lever J, Ridd S, Spies NC, Andric V, Chiorean A, Rieke DT, Clark KA, Reisle C, Venigalla AC, Evans M, Jani P, Takahashi H, Suda A, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Kesserwan C, Lamping M, Shen H, Marr AR, Hoang MH, Singhal K, Khanfar M, Li BV, Lin WH, Terraf P, Corson LB, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, King I, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith M, Griffith OL. CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase. Nucleic Acids Res. 2022 Nov 14;
Anderson KC, Cantley LC, Dalla-Favera R, Dang CV, Diaz LA, DuBois RN, Flaherty KT, Greenberg PD, Loda M, Mardis ER, Platz EA, Pollak MN, Schreiber RD, Siu LL, Teicher BA. The AACR Journals: Advancing Progress Toward the AACR's 115-Year Mission. Mol Cancer Ther. 2022 Nov 3; 21: 1625-1631.
Brenner JL, Jyo EM, Mohammad A, Fox P, Jones V, Mardis E, Schedl T, Maine EM. TRIM-NHL protein, NHL-2, modulates cell fate choices in the C. elegans germ line. Dev Biol. 2022 Sep 3; 491: 43-55.
Miller AR, Wijeratne S, McGrath SD, Schieffer KM, Miller KE, Lee K, Mathew M, LaHaye S, Fitch JR, Kelly BJ, White P, Mardis ER, Wilson RK, Cottrell CE, Magrini V. Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity. J Mol Diagn. 2022 Sep 30;
Cripe TP, Hutzen B, Currier MA, Chen CY, Glaspell AM, Sullivan GC, Hurley JM, Deighen MR, Venkataramany AS, Mo X, Stanek JR, Miller AR, Wijeratne S, Magrini V, Mardis ER, Mendell JR, Chandler DS, Wang PY. Leveraging gene therapy to achieve long-term continuous or controllable expression of biotherapeutics. Sci Adv. 2022 Jul 15; 8: eabm1890.
Koo SC, Schieffer KM, Lee K, Gupta A, Pfau RB, Avenarius MR, Stonerock E, LaHaye S, Fitch J, Setty BA, Roberts R, Ranalli M, Conces MR, Bu F, Mardis ER, Cottrell CE. EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors. Genes Chromosomes Cancer. 2022 Jul 7;
Larkin K, Nicolet D, Kelly BJ, Mrózek K, LaHaye S, Miller KE, Wijeratne S, Wheeler GL, Kohlschmidt J, Blachly JS, Mims AS, Walker C, Oakes CC, Orwick S, Boateng I, Buss J, Heyrosa A, Desai H, Carroll AJ, Blum W, Powell BL, Kolitz JE, Moore JO, Mayer RJ, Larson RA, Stone RM, Paskett ED, Byrd JC, Mardis E, Eisfeld AK. High early death rates, treatment resistance, and short survival of Black adolescents and young adults with AML. Blood Adv. 2022 Jul 5;
Skidmore ZL, Kunisaki J, Lin Y, Cotto KC, Barnell EK, Hundal J, Krysiak K, Magrini V, Trani L, Walker JR, Fulton R, Brunt EM, Miller CA, Wilson RK, Mardis ER, Griffith M, Chapman W, Griffith OL. Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers. Cancer Genet. 2022 Jun; 264-265: 90-99.
Bedrosian TA, Miller KE, Grischow OE, Schieffer KM, LaHaye S, Yoon H, Miller AR, Navarro J, Westfall J, Leraas K, Choi S, Williamson R, Fitch J, Kelly BJ, White P, Lee K, McGrath S, Cottrell CE, Magrini V, Leonard J, Pindrik J, Shaikhouni A, Boué DR, Thomas DL, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Koboldt DC. Detection of brain somatic variation in epilepsy-associated developmental lesions. Epilepsia. 2022 Jun 10;
De Faria FW, Schieffer KM, Pierson CR, Boue DR, LaHaye S, Miller KE, Amayiri N, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly B, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE, Rusin J, Finlay JL, Osorio DS. Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review. Genes Chromosomes Cancer. 2022 Jun 18;
Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 May; 3: 522-525.
Miller KE, Mardis ER. Pediatric CNS cancer genomics and immunogenomics. Curr Opin Genet Dev. 2022 May 23; 75: 101918.
Hetzel S, Mattei AL, Kretzmer H, Qu C, Chen X, Fan Y, Wu G, Roberts KG, Luger S, Litzow M, Rowe J, Paietta E, Stock W, Mardis ER, Wilson RK, Downing JR, Mullighan CG, Meissner A. Acute lymphoblastic leukemia displays a distinct highly methylated genome. Nat Cancer. 2022 May 19;
Eteleeb AM, Thunuguntla PK, Gelev KZ, Tang CY, Rozycki EB, Miller A, Lei JT, Jayasinghe RG, Dang HX, White NM, Reis-Filho JS, Mardis ER, Ellis MJ, Ding L, Silva-Fisher JM, Maher CA. LINC00355 regulates p27KIP expression by binding to MENIN to induce proliferation in late-stage relapse breast cancer. NPJ Breast Cancer. 2022 Apr 13; 8: 49.
Kautto EA, Schieffer KM, McGrath S, Miller AR, Hernandez Gonzalez ME, Choi S, Conces MR, Fernandez-Faith E, Ho ML, Lee K, Lillis AP, Pearson GD, Kaler SG, Wilson RK, Mardis ER, Magrini V, Leonard J, Cottrell CE. Expanding the Clinical Phenotype of FGFR1 Internal Tandem Duplication. Cold Spring Harb Mol Case Stud. 2022 Feb 11;
Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.
Baliga S, Matsui J, Klamer B, Cetnar A, Ewing A, Cadieux C, Gupta A, Setty BA, Roberts RD, Olshefski RS, Cripe TP, Scharschmidt TJ, Aldrink J, Mardis E, Yeager ND, Palmer JD. Clinical outcomes and efficacy of stereotactic body radiation therapy in children, adolescents, and young adults with metastatic solid tumors. Br J Radiol. 2022 Feb 10; 20211088.
Borozan I, Zaidi SH, Harrison TA, Phipps AI, Zheng J, Lee S, Trinh QM, Steinfelder RS, Adams J, Banbury BL, Berndt SI, Brezina S, Buchanan DD, Bullman S, Cao Y, Farris AB 3rd, Figueiredo JC, Giannakis M, Heisler LE, Hopper JL, Lin Y, Luo X, Nishihara R, Mardis ER, Papadopoulos N, Qu C, Reid EEG, Thibodeau SN, Harlid S, Um CY, Hsu L, Gsur A, Campbell PT, Gallinger S, Newcomb PA, Ogino S, Sun W, Hudson TJ, Ferretti V, Peters U. Molecular and Pathology Features of Colorectal Tumors and Patient Outcomes Are Associated with Fusobacterium nucleatum and Its Subspecies animalis. Cancer Epidemiol Biomarkers Prev. 2022 Jan; 31: 210-220.
Schaettler MO, Richters MM, Wang AZ, Skidmore ZL, Fisk B, Miller KE, Vickery TL, Kim AH, Chicoine MR, Osbun JW, Leuthardt EC, Dowling JL, Zipfel GJ, Dacey RG, Lu HC, Johanns TM, Griffith OL, Mardis ER, Griffith M, Dunn GP. Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis. Cancer Discov. 2022 Jan; 12: 154-171.
Miller KE, MacDonald JP, Sullivan L, Venkata LPR, Shi J, Yeates KO, Chen S, Alshaikh E, Taylor HG, Hautmann A, Asa N, Cohen DM, Pommering TL, Mardis ER, Yang J, NCH Concussion Research Group.. Salivary miRNA Expression in Children With Persistent Post-concussive Symptoms. Front Public Health. 2022; 10: 890420.
Miller KE, Wheeler G, LaHaye S, Schieffer KM, Cearlock S, Venkata LPR, Bravo AO, Grischow OE, Kelly BJ, White P, Pierson CR, Boué DR, Koo SC, Klawinski D, Ranalli MA, Shaikhouni A, Salloum R, Shatara M, Leonard JR, Wilson RK, Cottrell CE, Mardis ER, Koboldt DC. Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement. Front Oncol. 2022; 12: 932337.
Upadhyay R, Yadav D, Venkatesulu BP, Singh R, Baliga S, Raval RR, Lazow MA, Salloum R, Fouladi M, Mardis ER, Zaorsky NG, Trifiletti DM, Paulino AC, Palmer JD. Risk of secondary malignant neoplasms in children following proton therapy vs. photon therapy for primary CNS tumors: A systematic review and meta-analysis. Front Oncol. 2022; 12: 893855.
Ronsley R, Boué DR, Venkata LPR, Scott S, Shaikhouni A, Jones J, Schieffer KM, Cottrell CE, Mardis ER, Olshefski R, Salloum R, Miller KE. An unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient. Neurooncol Adv. 2022 Jan-Dec; 4: vdac121.
Lek M, Mardis ER. Envisioning the next human genome reference. Dis Model Mech. 2021 Dec 1; 14:
Shatara M, Schieffer KM, Klawinski D, Thomas DL, Pierson CR, Sribnick EA, Jones J, Rodriguez DP, Deeg C, Hamelberg E, LaHaye S, Miller KE, Fitch J, Kelly B, Leraas K, Pfau R, White P, Magrini V, Wilson RK, Mardis ER, Abdelbaki MS, Finlay JL, Boué DR, Cottrell CE, Ghasemi DR, Pajtler KW, Osorio DS. Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas. Acta Neuropathol Commun. 2021 Dec 11; 9: 192.
LaHaye S, Fitch JR, Voytovich KJ, Herman AC, Kelly BJ, Lammi GE, Arbesfeld JA, Wijeratne S, Franklin SJ, Schieffer KM, Bir N, McGrath SD, Miller AR, Wetzel A, Miller KE, Bedrosian TA, Leraas K, Varga EA, Lee K, Gupta A, Setty B, Boué DR, Leonard JR, Finlay JL, Abdelbaki MS, Osorio DS, Koo SC, Koboldt DC, Wagner AH, Eisfeld AK, Mrózek K, Magrini V, Cottrell CE, Mardis ER, Wilson RK, White P. Discovery of clinically relevant fusions in pediatric cancer. BMC Genomics. 2021 Dec 4; 22: 872.
Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7:
Mardis ER. The emergence of cancer genomics in diagnosis and precision medicine. Nat Cancer. 2021 Dec; 2: 1263-1264.
Trikha P, Moseman JE, Thakkar A, Campbell AR, Elmas E, Foltz JA, Chakravarti N, Fitch JR, Mardis ER, Lee DA. Defining the AHR-regulated transcriptome in NK cells reveals gene expression programs relevant to development and function. Blood Adv. 2021 Nov 23; 5: 4605-4618.
Gorsi B, Hernandez E, Moore MB, Moriwaki M, Chow CY, Coelho E, Taylor E, Lu C, Walker A, Touraine P, Nelson LM, Cooper AR, Mardis ER, Rajkovic A, Yandell M, Welt CK. Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency. J Clin Endocrinol Metab. 2021 Oct 26;
Gupta A, Liu H, Schieffer KM, Koo SC, Cottrell CE, Mardis ER, Roberts RD, Yeager ND. Targeted Therapy in a Young Adult With a Novel Epithelioid Tumor Driven by a PRRC2B-ALK Fusion. J Natl Compr Canc Netw. 2021 Oct 15; 19: 1116-1121.
Ghonime MG, Saini U, Kelly MC, Roth JC, Wang PY, Chen CY, Miller K, Hernandez-Aguirre I, Kim Y, Mo X, Stanek JR, Cripe T, Mardis E, Cassady KA. Eliciting an immune-mediated antitumor response through oncolytic herpes simplex virus-based shared antigen expression in tumors resistant to viroimmunotherapy. J Immunother Cancer. 2021 Oct; 9:
Koo SC, LaHaye S, Kovari BP, Schieffer KM, Ranalli MA, Aldrink JH, Michalsky MP, Colace S, Miller KE, Bedrosian TA, Leraas KM, Voytovich K, Wheeler G, Brennan P, Fitch J, Kelly BJ, McGrath SD, Miller AR, White P, Magrini V, Wilson RK, Mardis ER, Lauwers GY, Baker PB, Cottrell CE. Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence. Genes Chromosomes Cancer. 2021 Sep; 60: 640-646.
Mardis ER. Genomic prediction of neoantigens: immunogenomics before NGS. Nat Rev Genet. 2021 Sep; 22: 550-551.
Logan SJ, Schieffer KM, Conces MR, Stonerock E, Miller AR, Fitch J, LaHaye S, Voytovich K, McGrath S, Magrini V, White P, Wilson RK, Mardis ER, Cottrell CE, Koo SC. Novel morphologic findings in PLAG1-rearranged soft tissue tumors. Genes Chromosomes Cancer. 2021 Aug; 60: 577-585.
Wedekind MF, Miller KE, Chen CY, Wang PY, Hutzen BJ, Currier MA, Nartker B, Roberts RD, Boon L, Conner J, LaHaye S, Kelly BJ, Gordon D, White P, Mardis ER, Cripe TP. Endogenous retrovirus envelope as a tumor-associated immunotherapeutic target in murine osteosarcoma. iScience. 2021 Jul 23; 24: 102759.
Koboldt DC, Miller KE, Miller AR, Bush JM, McGrath S, Leraas K, Crist E, Fair S, Schwind W, Wijeratne S, Fitch J, Leonard J, Shaikhouni A, Hester ME, Magrini V, Ho ML, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Bedrosian TA. PTEN somatic mutations contribute to spectrum of cerebral overgrowth. Brain. 2021 May 28;
Schieffer KM, Feldman AZ, Kautto EA, McGrath S, Miller AR, Hernandez-Gonzalez ME, LaHaye S, Miller KE, Koboldt DC, Brennan P, Kelly B, Wetzel A, Agarwal V, Shatara M, Conley S, Rodriguez DP, Abu-Arja R, Shaikhkhalil A, Snuderl M, Orr BA, Finlay JL, Osorio DS, Drapeau AI, Leonard JR, Pierson CR, White P, Magrini V, Mardis ER, Wilson RK, Cottrell CE, Boué DR. Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma. Acta Neuropathol Commun. 2021 Apr 7; 9: 61.
Miller KE, Schieffer KM, Grischow O, Rodriguez DP, Cottrell CE, Leonard JR, Finlay JL, Mardis ER. Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation. Cold Spring Harb Mol Case Stud. 2021 Apr; 7:
Cable J, Greenbaum B, Pe'er D, Bollard CM, Bruni S, Griffin ME, Allison JP, Wu CJ, Subudhi SK, Mardis ER, Brentjens R, Sosman JA, Cemerski S, Zavitsanou AM, Proia T, Egeblad M, Nolan G, Goswami S, Spranger S, Mackall CL. Frontiers in cancer immunotherapy-a symposium report. Ann N Y Acad Sci. 2021 Apr; 1489: 30-47.
Collier KA, Asad S, Tallman D, Jenison J, Rajkovic A, Mardis ER, Parsons HA, Tolaney SM, Winer EP, Lin NU, Ha G, Adalsteinsson VA, Stover DG. Association of 17q22 Amplicon Via Cell-Free DNA With Platinum Chemotherapy Response in Metastatic Triple-Negative Breast Cancer. JCO Precis Oncol. 2021; 5:
Prasad RN, Gardner UG, Yaney A, Prevedello DM, Koboldt DC, Thomas DL, Mardis ER, Palmer JD. Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review. Front Oncol. 2021; 11: 721712.
Natarajan L, Pu M, Davies SR, Vickery TL, Nelson SH, Pittman E, Parker BA, Ellis MJ, Flatt SW, Mardis ER, Marinac CR, Pierce JP, Messer K. MiRNAs and long-term breast cancer survival: Evidence from the WHEL Study. Cancer Epidemiol Biomarkers Prev. 2019 Jun 11;
Robinson KM, Yang W, Karol SE, Kornegay N, Jay D, Cheng C, Choi JK, Campana D, Pui CH, Wood B, Borowitz MJ, Gastier-Foster J, Larsen EC, Winick N, Carroll WL, Loh ML, Raetz EA, Hunger SP, Devidas M, Mardis ER, Fulton RS, Relling MV, Jeha S. No evidence that G6PD deficiency affects the efficacy or safety of daunorubicin in acute lymphoblastic leukemia induction therapy. Pediatr Blood Cancer. 2019 Jun; 66: e27681.
Schieffer KM, Varga E, Miller KE, Agarwal V, Koboldt DC, Brennan P, Kelly B, Dave-Wala A, Pierson CR, Finlay JL, AbdelBaki MS, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE. Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma. Eur J Med Genet. 2019 Jun 10; 103701.
Darby CA, Fitch JR, Brennan PJ, Kelly BJ, Bir N, Magrini V, Leonard J, Cottrell CE, Gastier-Foster JM, Wilson RK, Mardis ER, White P, Langmead B, Schatz MC. Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads. iScience. 2019 May 29; 18: 1-10.
Ferreira-Gonzalez A, Mardis ER. Precision oncogenomics. Cold Spring Harb Mol Case Stud. 2019 Apr; 5:
Brady SW, Ma X, Bahrami A, Satas G, Wu G, Newman S, Rusch M, Putnam DK, Mulder HL, Yergeau DA, Edmonson MN, Easton J, Alexandrov LB, Chen X, Mardis ER, Wilson RK, Downing JR, Pappo AS, Raphael BJ, Dyer MA, Zhang J. The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. Mol Cancer Res. 2019 Apr; 17: 895-906.
Yusko E, Vignali M, Wilson RK, Mardis ER, Hodi FS, Horak C, Chang H, Woods DM, Robins H, Weber J. Association of Tumor Microenvironment T-cell Repertoire and Mutational Load with Clinical Outcome after Sequential Checkpoint Blockade in Melanoma. Cancer Immunol Res. 2019 Mar; 7: 458-465.
Haage V, Semtner M, Vidal RO, Hernandez DP, Pong WW, Chen Z, Hambardzumyan D, Magrini V, Ly A, Walker J, Mardis E, Mertins P, Sauer S, Kettenmann H, Gutmann DH. Comprehensive gene expression meta-analysis identifies signature genes that distinguish microglia from peripheral monocytes/macrophages in health and glioma. Acta Neuropathol Commun. 2019 Feb 14; 7: 20.
Hundal J, Kiwala S, Feng YY, Liu CJ, Govindan R, Chapman WC, Uppaluri R, Swamidass SJ, Griffith OL, Mardis ER, Griffith M. Accounting for proximal variants improves neoantigen prediction. Nat Genet. 2019 Jan; 51: 175-179.
Johanns TM, Miller CA, Liu CJ, Perrin RJ, Bender D, Kobayashi DK, Campian JL, Chicoine MR, Dacey RG, Huang J, Fritsch EF, Gillanders WE, Artyomov MN, Mardis ER, Schreiber RD, Dunn GP. Detection of neoantigen-specific T cells following a personalized vaccine in a patient with glioblastoma. Oncoimmunology. 2019; 8: e1561106.
Ainscough BJ, Barnell EK, Ronning P, Campbell KM, Wagner AH, Fehniger TA, Dunn GP, Uppaluri R, Govindan R, Rohan TE, Griffith M, Mardis ER, Swamidass SJ, Griffith OL. A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data. Nat Genet. 2018 Dec; 50: 1735-1743.
McCombie WR, McPherson JD, Mardis ER. Next-Generation Sequencing Technologies. Cold Spring Harb Perspect Med. 2018 Nov 26;
Mardis ER. The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic. Cold Spring Harb Perspect Med. 2018 Nov 5;
Wagner AH, Devarakonda S, Skidmore ZL, Krysiak K, Ramu A, Trani L, Kunisaki J, Masood A, Waqar SN, Spies NC, Morgensztern D, Waligorski J, Ponce J, Fulton RS, Maggi LB Jr, Weber JD, Watson MA, O'Conor CJ, Ritter JH, Olsen RR, Cheng H, Mukhopadhyay A, Can I, Cessna MH, Oliver TG, Mardis ER, Wilson RK, Griffith M, Griffith OL, Govindan R. Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer. Nat Commun. 2018 Sep 17; 9: 3787.
Stewart E, McEvoy J, Wang H, Chen X, Honnell V, Ocarz M, Gordon B, Dapper J, Blankenship K, Yang Y, Li Y, Shaw TI, Cho JH, Wang X, Xu B, Gupta P, Fan Y, Liu Y, Rusch M, Griffiths L, Jeon J, Freeman BB 3rd, Clay MR, Pappo A, Easton J, Shurtleff S, Shelat A, Zhou X, Boggs K, Mulder H, Yergeau D, Bahrami A, Mardis ER, Wilson RK, Zhang J, Peng J, Downing JR, Dyer MA, St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project.. Identification of Therapeutic Targets in Rhabdomyosarcoma through Integrated Genomic, Epigenomic, and Proteomic Analyses. Cancer Cell. 2018 Sep 10; 34: 411-426.e19.
Campbell KM, Lin T, Zolkind P, Barnell EK, Skidmore ZL, Winkler AE, Law JH, Mardis ER, Wartman LD, Adkins DR, Chernock RD, Griffith M, Uppaluri R, Griffith OL. Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity. Cell Rep. 2018 Aug 21; 24: 2167-2178.
Tanioka M, Fan C, Parker JS, Hoadley KA, Hu Z, Li Y, Hyslop TM, Pitcher BN, Soloway MG, Spears PA, Henry LN, Tolaney S, Dang CT, Krop IE, Harris LN, Berry DA, Mardis ER, Winer EP, Hudis CA, Carey LA, Perou CM. Integrated Analysis of RNA and DNA from the Phase III Trial CALGB 40601 Identifies Predictors of Response to Trastuzumab-Based Neoadjuvant Chemotherapy in HER2-Positive Breast Cancer. Clin Cancer Res. 2018 Jul 23;
Rohan TE, Miller CA, Li T, Wang Y, Loudig O, Ginsberg M, Glass A, Mardis E. Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer. Br J Cancer. 2018 Jun; 118: 1662-1664.
Berger MF, Mardis ER. The emerging clinical relevance of genomics in cancer medicine. Nat Rev Clin Oncol. 2018 Jun; 15: 353-365.
Churchman ML, Qian M, Te Kronnie G, Zhang R, Yang W, Zhang H, Lana T, Tedrick P, Baskin R, Verbist K, Peters JL, Devidas M, Larsen E, Moore IM, Gu Z, Qu C, Yoshihara H, Porter SN, Pruett-Miller SM, Wu G, Raetz E, Martin PL, Bowman WP, Winick N, Mardis E, Fulton R, Stanulla M, Evans WE, Relling MV, Pui CH, Hunger SP, Loh ML, Handgretinger R, Nichols KE, Yang JJ, Mullighan CG. Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. Cancer Cell. 2018 May 14; 33: 937-948.e8.
Mardis ER. Clinical and Genomic Insights from Metastatic Cancers. Clin Chem. 2018 May; 64: 766-768.
Siegel MB, He X, Hoadley KA, Hoyle A, Pearce JB, Garrett AL, Kumar S, Moylan VJ, Brady CM, Van Swearingen AE, Marron D, Gupta GP, Thorne LB, Kieran N, Livasy C, Mardis ER, Parker JS, Chen M, Anders CK, Carey LA, Perou CM. Integrated RNA and DNA sequencing reveals early drivers of metastatic breast cancer. J Clin Invest. 2018 Apr 2; 128: 1371-1383.
Miller CA, Dahiya S, Li T, Fulton RS, Smyth MD, Dunn GP, Rubin JB, Mardis ER. Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patient. Cold Spring Harb Mol Case Stud. 2018 Apr; 4:
White BS, Lanc I, O'Neal J, Gupta H, Fulton RS, Schmidt H, Fronick C, Belter EA Jr, Fiala M, King J, Ahmann GJ, DeRome M, Mardis ER, Vij R, DiPersio JF, Levy J, Auclair D, Tomasson MH. A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5. Blood Cancer J. 2018 Mar 21; 8: 35.
Mardis E. Many mutations in one clinical-trial basket. Nature. 2018 Feb 8; 554: 173-175.
View More Publications
Garcia-Recio S, Hinoue T, Wheeler GL, Kelly BJ, Garrido-Castro AC, Pascual T, De Cubas AA, Xia Y, Felsheim BM, McClure MB, Rajkovic A, Karaesmen E, Smith MA, Fan C, Ericsson PIG, Sanders ME, Creighton CJ, Bowen J, Leraas K, Burns RT, Coppens S, Wheless A, Rezk S, Garrett AL, Parker JS, Foy KK, Shen H, Park BH, Krop I, Anders C, Gastier-Foster J, Rimawi MF, Nanda R, Lin NU, Isaacs C, Marcom PK, Storniolo AM, Couch FJ, Chandran U, Davis M, Silverstein J, Ropelewski A, Liu MC, Hilsenbeck SG, Norton L, Richardson AL, Symmans WF, Wolff AC, Davidson NE, Carey LA, Lee AV, Balko JM, Hoadley KA, Laird PW, Mardis ER, King TA, AURORA US Network, Perou CM. Multiomics in primary and metastatic breast tumors from the AURORA US network finds microenvironment and epigenetic drivers of metastasis. Nat Cancer. 2022 Dec 30;
Fernandez-Rozadilla C, Timofeeva M, Chen Z, Law P, Thomas M, Schmit S, Díez-Obrero V, Hsu L, Fernandez-Tajes J, Palles C, Sherwood K, Briggs S, Svinti V, Donnelly K, Farrington S, Blackmur J, Vaughan-Shaw P, Shu XO, Long J, Cai Q, Guo X, Lu Y, Broderick P, Studd J, Huyghe J, Harrison T, Conti D, Dampier C, Devall M, Schumacher F, Melas M, Rennert G, Obón-Santacana M, Martín-Sánchez V, Moratalla-Navarro F, Oh JH, Kim J, Jee SH, Jung KJ, Kweon SS, Shin MH, Shin A, Ahn YO, Kim DH, Oze I, Wen W, Matsuo K, Matsuda K, Tanikawa C, Ren Z, Gao YT, Jia WH, Hopper J, Jenkins M, Win AK, Pai R, Figueiredo J, Haile R, Gallinger S, Woods M, Newcomb P, Duggan D, Cheadle J, Kaplan R, Maughan T, Kerr R, Kerr D, Kirac I, Böhm J, Mecklin LP, Jousilahti P, Knekt P, Aaltonen L, Rissanen H, Pukkala E, Eriksson J, Cajuso T, Hänninen U, Kondelin J, Palin K, Tanskanen T, Renkonen-Sinisalo L, Zanke B, Männistö S, Albanes D, Weinstein S, Ruiz-Narvaez E, Palmer J, Buchanan D, Platz E, Visvanathan K, Ulrich C, Siegel E, Brezina S, Gsur A, Campbell P, Chang-Claude J, Hoffmeister M, Brenner H, Slattery M, Potter J, Tsilidis K, Schulze M, Gunter M, Murphy N, Castells A, Castellví-Bel S, Moreira L, Arndt V, Shcherbina A, Stern M, Pardamean B, Bishop T, Giles G, Southey M, Idos G, McDonnell K, Abu-Ful Z, Greenson J, Shulman K, Lejbkowicz F, Offit K, Su YR, Steinfelder R, Keku T, van Guelpen B, Hudson T, Hampel H, Pearlman R, Berndt S, Hayes R, Martinez ME, Thomas S, Corley D, Pharoah P, Larsson S, Yen Y, Lenz HJ, White E, Li L, Doheny K, Pugh E, Shelford T, Chan A, Cruz-Correa M, Lindblom A, Hunter D, Joshi A, Schafmayer C, Scacheri P, Kundaje A, Nickerson D, Schoen R, Hampe J, Stadler Z, Vodicka P, Vodickova L, Vymetalkova V, Papadopoulos N, Edlund C, Gauderman W, Thomas D, Shibata D, Toland A, Markowitz S, Kim A, Chanock S, van Duijnhoven F, Feskens E, Sakoda L, Gago-Dominguez M, Wolk A, Naccarati A, Pardini B, FitzGerald L, Lee SC, Ogino S, Bien S, Kooperberg C, Li C, Lin Y, Prentice R, Qu C, Bézieau S, Tangen C, Mardis E, Yamaji T, Sawada N, Iwasaki M, Haiman C, Le Marchand L, Wu A, Qu C, McNeil C, Coetzee G, Hayward C, Deary I, Harris S, Theodoratou E, Reid S, Walker M, Ooi LY, Moreno V, Casey G, Gruber S, Tomlinson I, Zheng W, Dunlop M, Houlston R, Peters U. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nat Genet. 2022 Dec 20;
Kalathoor S, Rajendran S, Canella A, Raval R, Cripe TP, Mardis ER, Rajappa P. Myeloid cell heterogeneity in the tumor microenvironment and therapeutic implications for childhood central nervous system (CNS) tumors. J Neuroimmunol. 2022 Dec 5; 374: 578009.
Westfall JJ, Schwind WN, Sran S, Navarro JB, Leonard J, Pindrik JA, Pierson CR, Boué DR, Koboldt DC, Ostendorf AP, Wilson RK, Mardis ER, Miller KE, Bedrosian TA. Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis. Acta Neuropathol Commun. 2022 Nov 21; 10: 168.
Krysiak K, Danos AM, Saliba J, McMichael JF, Coffman AC, Kiwala S, Barnell EK, Sheta L, Grisdale CJ, Kujan L, Pema S, Lever J, Ridd S, Spies NC, Andric V, Chiorean A, Rieke DT, Clark KA, Reisle C, Venigalla AC, Evans M, Jani P, Takahashi H, Suda A, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Kesserwan C, Lamping M, Shen H, Marr AR, Hoang MH, Singhal K, Khanfar M, Li BV, Lin WH, Terraf P, Corson LB, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, King I, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith M, Griffith OL. CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase. Nucleic Acids Res. 2022 Nov 14;
Anderson KC, Cantley LC, Dalla-Favera R, Dang CV, Diaz LA, DuBois RN, Flaherty KT, Greenberg PD, Loda M, Mardis ER, Platz EA, Pollak MN, Schreiber RD, Siu LL, Teicher BA. The AACR Journals: Advancing Progress Toward the AACR's 115-Year Mission. Mol Cancer Ther. 2022 Nov 3; 21: 1625-1631.
Brenner JL, Jyo EM, Mohammad A, Fox P, Jones V, Mardis E, Schedl T, Maine EM. TRIM-NHL protein, NHL-2, modulates cell fate choices in the C. elegans germ line. Dev Biol. 2022 Sep 3; 491: 43-55.
Miller AR, Wijeratne S, McGrath SD, Schieffer KM, Miller KE, Lee K, Mathew M, LaHaye S, Fitch JR, Kelly BJ, White P, Mardis ER, Wilson RK, Cottrell CE, Magrini V. Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity. J Mol Diagn. 2022 Sep 30;
Cripe TP, Hutzen B, Currier MA, Chen CY, Glaspell AM, Sullivan GC, Hurley JM, Deighen MR, Venkataramany AS, Mo X, Stanek JR, Miller AR, Wijeratne S, Magrini V, Mardis ER, Mendell JR, Chandler DS, Wang PY. Leveraging gene therapy to achieve long-term continuous or controllable expression of biotherapeutics. Sci Adv. 2022 Jul 15; 8: eabm1890.
Koo SC, Schieffer KM, Lee K, Gupta A, Pfau RB, Avenarius MR, Stonerock E, LaHaye S, Fitch J, Setty BA, Roberts R, Ranalli M, Conces MR, Bu F, Mardis ER, Cottrell CE. EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors. Genes Chromosomes Cancer. 2022 Jul 7;
Larkin K, Nicolet D, Kelly BJ, Mrózek K, LaHaye S, Miller KE, Wijeratne S, Wheeler GL, Kohlschmidt J, Blachly JS, Mims AS, Walker C, Oakes CC, Orwick S, Boateng I, Buss J, Heyrosa A, Desai H, Carroll AJ, Blum W, Powell BL, Kolitz JE, Moore JO, Mayer RJ, Larson RA, Stone RM, Paskett ED, Byrd JC, Mardis E, Eisfeld AK. High early death rates, treatment resistance, and short survival of Black adolescents and young adults with AML. Blood Adv. 2022 Jul 5;
Skidmore ZL, Kunisaki J, Lin Y, Cotto KC, Barnell EK, Hundal J, Krysiak K, Magrini V, Trani L, Walker JR, Fulton R, Brunt EM, Miller CA, Wilson RK, Mardis ER, Griffith M, Chapman W, Griffith OL. Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers. Cancer Genet. 2022 Jun; 264-265: 90-99.
Bedrosian TA, Miller KE, Grischow OE, Schieffer KM, LaHaye S, Yoon H, Miller AR, Navarro J, Westfall J, Leraas K, Choi S, Williamson R, Fitch J, Kelly BJ, White P, Lee K, McGrath S, Cottrell CE, Magrini V, Leonard J, Pindrik J, Shaikhouni A, Boué DR, Thomas DL, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Koboldt DC. Detection of brain somatic variation in epilepsy-associated developmental lesions. Epilepsia. 2022 Jun 10;
De Faria FW, Schieffer KM, Pierson CR, Boue DR, LaHaye S, Miller KE, Amayiri N, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly B, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE, Rusin J, Finlay JL, Osorio DS. Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review. Genes Chromosomes Cancer. 2022 Jun 18;
Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 May; 3: 522-525.
Miller KE, Mardis ER. Pediatric CNS cancer genomics and immunogenomics. Curr Opin Genet Dev. 2022 May 23; 75: 101918.
Hetzel S, Mattei AL, Kretzmer H, Qu C, Chen X, Fan Y, Wu G, Roberts KG, Luger S, Litzow M, Rowe J, Paietta E, Stock W, Mardis ER, Wilson RK, Downing JR, Mullighan CG, Meissner A. Acute lymphoblastic leukemia displays a distinct highly methylated genome. Nat Cancer. 2022 May 19;
Eteleeb AM, Thunuguntla PK, Gelev KZ, Tang CY, Rozycki EB, Miller A, Lei JT, Jayasinghe RG, Dang HX, White NM, Reis-Filho JS, Mardis ER, Ellis MJ, Ding L, Silva-Fisher JM, Maher CA. LINC00355 regulates p27KIP expression by binding to MENIN to induce proliferation in late-stage relapse breast cancer. NPJ Breast Cancer. 2022 Apr 13; 8: 49.
Kautto EA, Schieffer KM, McGrath S, Miller AR, Hernandez Gonzalez ME, Choi S, Conces MR, Fernandez-Faith E, Ho ML, Lee K, Lillis AP, Pearson GD, Kaler SG, Wilson RK, Mardis ER, Magrini V, Leonard J, Cottrell CE. Expanding the Clinical Phenotype of FGFR1 Internal Tandem Duplication. Cold Spring Harb Mol Case Stud. 2022 Feb 11;
Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.
Baliga S, Matsui J, Klamer B, Cetnar A, Ewing A, Cadieux C, Gupta A, Setty BA, Roberts RD, Olshefski RS, Cripe TP, Scharschmidt TJ, Aldrink J, Mardis E, Yeager ND, Palmer JD. Clinical outcomes and efficacy of stereotactic body radiation therapy in children, adolescents, and young adults with metastatic solid tumors. Br J Radiol. 2022 Feb 10; 20211088.
Borozan I, Zaidi SH, Harrison TA, Phipps AI, Zheng J, Lee S, Trinh QM, Steinfelder RS, Adams J, Banbury BL, Berndt SI, Brezina S, Buchanan DD, Bullman S, Cao Y, Farris AB 3rd, Figueiredo JC, Giannakis M, Heisler LE, Hopper JL, Lin Y, Luo X, Nishihara R, Mardis ER, Papadopoulos N, Qu C, Reid EEG, Thibodeau SN, Harlid S, Um CY, Hsu L, Gsur A, Campbell PT, Gallinger S, Newcomb PA, Ogino S, Sun W, Hudson TJ, Ferretti V, Peters U. Molecular and Pathology Features of Colorectal Tumors and Patient Outcomes Are Associated with Fusobacterium nucleatum and Its Subspecies animalis. Cancer Epidemiol Biomarkers Prev. 2022 Jan; 31: 210-220.
Schaettler MO, Richters MM, Wang AZ, Skidmore ZL, Fisk B, Miller KE, Vickery TL, Kim AH, Chicoine MR, Osbun JW, Leuthardt EC, Dowling JL, Zipfel GJ, Dacey RG, Lu HC, Johanns TM, Griffith OL, Mardis ER, Griffith M, Dunn GP. Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis. Cancer Discov. 2022 Jan; 12: 154-171.
Miller KE, MacDonald JP, Sullivan L, Venkata LPR, Shi J, Yeates KO, Chen S, Alshaikh E, Taylor HG, Hautmann A, Asa N, Cohen DM, Pommering TL, Mardis ER, Yang J, NCH Concussion Research Group.. Salivary miRNA Expression in Children With Persistent Post-concussive Symptoms. Front Public Health. 2022; 10: 890420.
Miller KE, Wheeler G, LaHaye S, Schieffer KM, Cearlock S, Venkata LPR, Bravo AO, Grischow OE, Kelly BJ, White P, Pierson CR, Boué DR, Koo SC, Klawinski D, Ranalli MA, Shaikhouni A, Salloum R, Shatara M, Leonard JR, Wilson RK, Cottrell CE, Mardis ER, Koboldt DC. Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement. Front Oncol. 2022; 12: 932337.
Upadhyay R, Yadav D, Venkatesulu BP, Singh R, Baliga S, Raval RR, Lazow MA, Salloum R, Fouladi M, Mardis ER, Zaorsky NG, Trifiletti DM, Paulino AC, Palmer JD. Risk of secondary malignant neoplasms in children following proton therapy vs. photon therapy for primary CNS tumors: A systematic review and meta-analysis. Front Oncol. 2022; 12: 893855.
Ronsley R, Boué DR, Venkata LPR, Scott S, Shaikhouni A, Jones J, Schieffer KM, Cottrell CE, Mardis ER, Olshefski R, Salloum R, Miller KE. An unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient. Neurooncol Adv. 2022 Jan-Dec; 4: vdac121.
Lek M, Mardis ER. Envisioning the next human genome reference. Dis Model Mech. 2021 Dec 1; 14:
Shatara M, Schieffer KM, Klawinski D, Thomas DL, Pierson CR, Sribnick EA, Jones J, Rodriguez DP, Deeg C, Hamelberg E, LaHaye S, Miller KE, Fitch J, Kelly B, Leraas K, Pfau R, White P, Magrini V, Wilson RK, Mardis ER, Abdelbaki MS, Finlay JL, Boué DR, Cottrell CE, Ghasemi DR, Pajtler KW, Osorio DS. Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas. Acta Neuropathol Commun. 2021 Dec 11; 9: 192.
LaHaye S, Fitch JR, Voytovich KJ, Herman AC, Kelly BJ, Lammi GE, Arbesfeld JA, Wijeratne S, Franklin SJ, Schieffer KM, Bir N, McGrath SD, Miller AR, Wetzel A, Miller KE, Bedrosian TA, Leraas K, Varga EA, Lee K, Gupta A, Setty B, Boué DR, Leonard JR, Finlay JL, Abdelbaki MS, Osorio DS, Koo SC, Koboldt DC, Wagner AH, Eisfeld AK, Mrózek K, Magrini V, Cottrell CE, Mardis ER, Wilson RK, White P. Discovery of clinically relevant fusions in pediatric cancer. BMC Genomics. 2021 Dec 4; 22: 872.
Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7:
Mardis ER. The emergence of cancer genomics in diagnosis and precision medicine. Nat Cancer. 2021 Dec; 2: 1263-1264.
Trikha P, Moseman JE, Thakkar A, Campbell AR, Elmas E, Foltz JA, Chakravarti N, Fitch JR, Mardis ER, Lee DA. Defining the AHR-regulated transcriptome in NK cells reveals gene expression programs relevant to development and function. Blood Adv. 2021 Nov 23; 5: 4605-4618.
Gorsi B, Hernandez E, Moore MB, Moriwaki M, Chow CY, Coelho E, Taylor E, Lu C, Walker A, Touraine P, Nelson LM, Cooper AR, Mardis ER, Rajkovic A, Yandell M, Welt CK. Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency. J Clin Endocrinol Metab. 2021 Oct 26;
Gupta A, Liu H, Schieffer KM, Koo SC, Cottrell CE, Mardis ER, Roberts RD, Yeager ND. Targeted Therapy in a Young Adult With a Novel Epithelioid Tumor Driven by a PRRC2B-ALK Fusion. J Natl Compr Canc Netw. 2021 Oct 15; 19: 1116-1121.
Ghonime MG, Saini U, Kelly MC, Roth JC, Wang PY, Chen CY, Miller K, Hernandez-Aguirre I, Kim Y, Mo X, Stanek JR, Cripe T, Mardis E, Cassady KA. Eliciting an immune-mediated antitumor response through oncolytic herpes simplex virus-based shared antigen expression in tumors resistant to viroimmunotherapy. J Immunother Cancer. 2021 Oct; 9:
Koo SC, LaHaye S, Kovari BP, Schieffer KM, Ranalli MA, Aldrink JH, Michalsky MP, Colace S, Miller KE, Bedrosian TA, Leraas KM, Voytovich K, Wheeler G, Brennan P, Fitch J, Kelly BJ, McGrath SD, Miller AR, White P, Magrini V, Wilson RK, Mardis ER, Lauwers GY, Baker PB, Cottrell CE. Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence. Genes Chromosomes Cancer. 2021 Sep; 60: 640-646.
Mardis ER. Genomic prediction of neoantigens: immunogenomics before NGS. Nat Rev Genet. 2021 Sep; 22: 550-551.
Logan SJ, Schieffer KM, Conces MR, Stonerock E, Miller AR, Fitch J, LaHaye S, Voytovich K, McGrath S, Magrini V, White P, Wilson RK, Mardis ER, Cottrell CE, Koo SC. Novel morphologic findings in PLAG1-rearranged soft tissue tumors. Genes Chromosomes Cancer. 2021 Aug; 60: 577-585.
Wedekind MF, Miller KE, Chen CY, Wang PY, Hutzen BJ, Currier MA, Nartker B, Roberts RD, Boon L, Conner J, LaHaye S, Kelly BJ, Gordon D, White P, Mardis ER, Cripe TP. Endogenous retrovirus envelope as a tumor-associated immunotherapeutic target in murine osteosarcoma. iScience. 2021 Jul 23; 24: 102759.
Koboldt DC, Miller KE, Miller AR, Bush JM, McGrath S, Leraas K, Crist E, Fair S, Schwind W, Wijeratne S, Fitch J, Leonard J, Shaikhouni A, Hester ME, Magrini V, Ho ML, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Bedrosian TA. PTEN somatic mutations contribute to spectrum of cerebral overgrowth. Brain. 2021 May 28;
Schieffer KM, Feldman AZ, Kautto EA, McGrath S, Miller AR, Hernandez-Gonzalez ME, LaHaye S, Miller KE, Koboldt DC, Brennan P, Kelly B, Wetzel A, Agarwal V, Shatara M, Conley S, Rodriguez DP, Abu-Arja R, Shaikhkhalil A, Snuderl M, Orr BA, Finlay JL, Osorio DS, Drapeau AI, Leonard JR, Pierson CR, White P, Magrini V, Mardis ER, Wilson RK, Cottrell CE, Boué DR. Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma. Acta Neuropathol Commun. 2021 Apr 7; 9: 61.
Miller KE, Schieffer KM, Grischow O, Rodriguez DP, Cottrell CE, Leonard JR, Finlay JL, Mardis ER. Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation. Cold Spring Harb Mol Case Stud. 2021 Apr; 7:
Cable J, Greenbaum B, Pe'er D, Bollard CM, Bruni S, Griffin ME, Allison JP, Wu CJ, Subudhi SK, Mardis ER, Brentjens R, Sosman JA, Cemerski S, Zavitsanou AM, Proia T, Egeblad M, Nolan G, Goswami S, Spranger S, Mackall CL. Frontiers in cancer immunotherapy-a symposium report. Ann N Y Acad Sci. 2021 Apr; 1489: 30-47.
Collier KA, Asad S, Tallman D, Jenison J, Rajkovic A, Mardis ER, Parsons HA, Tolaney SM, Winer EP, Lin NU, Ha G, Adalsteinsson VA, Stover DG. Association of 17q22 Amplicon Via Cell-Free DNA With Platinum Chemotherapy Response in Metastatic Triple-Negative Breast Cancer. JCO Precis Oncol. 2021; 5:
Prasad RN, Gardner UG, Yaney A, Prevedello DM, Koboldt DC, Thomas DL, Mardis ER, Palmer JD. Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review. Front Oncol. 2021; 11: 721712.
Natarajan L, Pu M, Davies SR, Vickery TL, Nelson SH, Pittman E, Parker BA, Ellis MJ, Flatt SW, Mardis ER, Marinac CR, Pierce JP, Messer K. MiRNAs and long-term breast cancer survival: Evidence from the WHEL Study. Cancer Epidemiol Biomarkers Prev. 2019 Jun 11;
Robinson KM, Yang W, Karol SE, Kornegay N, Jay D, Cheng C, Choi JK, Campana D, Pui CH, Wood B, Borowitz MJ, Gastier-Foster J, Larsen EC, Winick N, Carroll WL, Loh ML, Raetz EA, Hunger SP, Devidas M, Mardis ER, Fulton RS, Relling MV, Jeha S. No evidence that G6PD deficiency affects the efficacy or safety of daunorubicin in acute lymphoblastic leukemia induction therapy. Pediatr Blood Cancer. 2019 Jun; 66: e27681.
Schieffer KM, Varga E, Miller KE, Agarwal V, Koboldt DC, Brennan P, Kelly B, Dave-Wala A, Pierson CR, Finlay JL, AbdelBaki MS, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE. Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma. Eur J Med Genet. 2019 Jun 10; 103701.
Darby CA, Fitch JR, Brennan PJ, Kelly BJ, Bir N, Magrini V, Leonard J, Cottrell CE, Gastier-Foster JM, Wilson RK, Mardis ER, White P, Langmead B, Schatz MC. Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads. iScience. 2019 May 29; 18: 1-10.
Ferreira-Gonzalez A, Mardis ER. Precision oncogenomics. Cold Spring Harb Mol Case Stud. 2019 Apr; 5:
Brady SW, Ma X, Bahrami A, Satas G, Wu G, Newman S, Rusch M, Putnam DK, Mulder HL, Yergeau DA, Edmonson MN, Easton J, Alexandrov LB, Chen X, Mardis ER, Wilson RK, Downing JR, Pappo AS, Raphael BJ, Dyer MA, Zhang J. The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. Mol Cancer Res. 2019 Apr; 17: 895-906.
Yusko E, Vignali M, Wilson RK, Mardis ER, Hodi FS, Horak C, Chang H, Woods DM, Robins H, Weber J. Association of Tumor Microenvironment T-cell Repertoire and Mutational Load with Clinical Outcome after Sequential Checkpoint Blockade in Melanoma. Cancer Immunol Res. 2019 Mar; 7: 458-465.
Haage V, Semtner M, Vidal RO, Hernandez DP, Pong WW, Chen Z, Hambardzumyan D, Magrini V, Ly A, Walker J, Mardis E, Mertins P, Sauer S, Kettenmann H, Gutmann DH. Comprehensive gene expression meta-analysis identifies signature genes that distinguish microglia from peripheral monocytes/macrophages in health and glioma. Acta Neuropathol Commun. 2019 Feb 14; 7: 20.
Hundal J, Kiwala S, Feng YY, Liu CJ, Govindan R, Chapman WC, Uppaluri R, Swamidass SJ, Griffith OL, Mardis ER, Griffith M. Accounting for proximal variants improves neoantigen prediction. Nat Genet. 2019 Jan; 51: 175-179.
Johanns TM, Miller CA, Liu CJ, Perrin RJ, Bender D, Kobayashi DK, Campian JL, Chicoine MR, Dacey RG, Huang J, Fritsch EF, Gillanders WE, Artyomov MN, Mardis ER, Schreiber RD, Dunn GP. Detection of neoantigen-specific T cells following a personalized vaccine in a patient with glioblastoma. Oncoimmunology. 2019; 8: e1561106.
Ainscough BJ, Barnell EK, Ronning P, Campbell KM, Wagner AH, Fehniger TA, Dunn GP, Uppaluri R, Govindan R, Rohan TE, Griffith M, Mardis ER, Swamidass SJ, Griffith OL. A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data. Nat Genet. 2018 Dec; 50: 1735-1743.
McCombie WR, McPherson JD, Mardis ER. Next-Generation Sequencing Technologies. Cold Spring Harb Perspect Med. 2018 Nov 26;
Mardis ER. The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic. Cold Spring Harb Perspect Med. 2018 Nov 5;
Wagner AH, Devarakonda S, Skidmore ZL, Krysiak K, Ramu A, Trani L, Kunisaki J, Masood A, Waqar SN, Spies NC, Morgensztern D, Waligorski J, Ponce J, Fulton RS, Maggi LB Jr, Weber JD, Watson MA, O'Conor CJ, Ritter JH, Olsen RR, Cheng H, Mukhopadhyay A, Can I, Cessna MH, Oliver TG, Mardis ER, Wilson RK, Griffith M, Griffith OL, Govindan R. Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer. Nat Commun. 2018 Sep 17; 9: 3787.
Stewart E, McEvoy J, Wang H, Chen X, Honnell V, Ocarz M, Gordon B, Dapper J, Blankenship K, Yang Y, Li Y, Shaw TI, Cho JH, Wang X, Xu B, Gupta P, Fan Y, Liu Y, Rusch M, Griffiths L, Jeon J, Freeman BB 3rd, Clay MR, Pappo A, Easton J, Shurtleff S, Shelat A, Zhou X, Boggs K, Mulder H, Yergeau D, Bahrami A, Mardis ER, Wilson RK, Zhang J, Peng J, Downing JR, Dyer MA, St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project.. Identification of Therapeutic Targets in Rhabdomyosarcoma through Integrated Genomic, Epigenomic, and Proteomic Analyses. Cancer Cell. 2018 Sep 10; 34: 411-426.e19.
Campbell KM, Lin T, Zolkind P, Barnell EK, Skidmore ZL, Winkler AE, Law JH, Mardis ER, Wartman LD, Adkins DR, Chernock RD, Griffith M, Uppaluri R, Griffith OL. Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity. Cell Rep. 2018 Aug 21; 24: 2167-2178.
Tanioka M, Fan C, Parker JS, Hoadley KA, Hu Z, Li Y, Hyslop TM, Pitcher BN, Soloway MG, Spears PA, Henry LN, Tolaney S, Dang CT, Krop IE, Harris LN, Berry DA, Mardis ER, Winer EP, Hudis CA, Carey LA, Perou CM. Integrated Analysis of RNA and DNA from the Phase III Trial CALGB 40601 Identifies Predictors of Response to Trastuzumab-Based Neoadjuvant Chemotherapy in HER2-Positive Breast Cancer. Clin Cancer Res. 2018 Jul 23;
Rohan TE, Miller CA, Li T, Wang Y, Loudig O, Ginsberg M, Glass A, Mardis E. Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer. Br J Cancer. 2018 Jun; 118: 1662-1664.
Berger MF, Mardis ER. The emerging clinical relevance of genomics in cancer medicine. Nat Rev Clin Oncol. 2018 Jun; 15: 353-365.
Churchman ML, Qian M, Te Kronnie G, Zhang R, Yang W, Zhang H, Lana T, Tedrick P, Baskin R, Verbist K, Peters JL, Devidas M, Larsen E, Moore IM, Gu Z, Qu C, Yoshihara H, Porter SN, Pruett-Miller SM, Wu G, Raetz E, Martin PL, Bowman WP, Winick N, Mardis E, Fulton R, Stanulla M, Evans WE, Relling MV, Pui CH, Hunger SP, Loh ML, Handgretinger R, Nichols KE, Yang JJ, Mullighan CG. Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. Cancer Cell. 2018 May 14; 33: 937-948.e8.
Mardis ER. Clinical and Genomic Insights from Metastatic Cancers. Clin Chem. 2018 May; 64: 766-768.
Siegel MB, He X, Hoadley KA, Hoyle A, Pearce JB, Garrett AL, Kumar S, Moylan VJ, Brady CM, Van Swearingen AE, Marron D, Gupta GP, Thorne LB, Kieran N, Livasy C, Mardis ER, Parker JS, Chen M, Anders CK, Carey LA, Perou CM. Integrated RNA and DNA sequencing reveals early drivers of metastatic breast cancer. J Clin Invest. 2018 Apr 2; 128: 1371-1383.
Miller CA, Dahiya S, Li T, Fulton RS, Smyth MD, Dunn GP, Rubin JB, Mardis ER. Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patient. Cold Spring Harb Mol Case Stud. 2018 Apr; 4:
White BS, Lanc I, O'Neal J, Gupta H, Fulton RS, Schmidt H, Fronick C, Belter EA Jr, Fiala M, King J, Ahmann GJ, DeRome M, Mardis ER, Vij R, DiPersio JF, Levy J, Auclair D, Tomasson MH. A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5. Blood Cancer J. 2018 Mar 21; 8: 35.
Mardis E. Many mutations in one clinical-trial basket. Nature. 2018 Feb 8; 554: 173-175.
View More Publications
- Garcia-Recio S, Hinoue T, Wheeler GL, Kelly BJ, Garrido-Castro AC, Pascual T, De Cubas AA, Xia Y, Felsheim BM, McClure MB, Rajkovic A, Karaesmen E, Smith MA, Fan C, Ericsson PIG, Sanders ME, Creighton CJ, Bowen J, Leraas K, Burns RT, Coppens S, Wheless A, Rezk S, Garrett AL, Parker JS, Foy KK, Shen H, Park BH, Krop I, Anders C, Gastier-Foster J, Rimawi MF, Nanda R, Lin NU, Isaacs C, Marcom PK, Storniolo AM, Couch FJ, Chandran U, Davis M, Silverstein J, Ropelewski A, Liu MC, Hilsenbeck SG, Norton L, Richardson AL, Symmans WF, Wolff AC, Davidson NE, Carey LA, Lee AV, Balko JM, Hoadley KA, Laird PW, Mardis ER, King TA, AURORA US Network, Perou CM. Multiomics in primary and metastatic breast tumors from the AURORA US network finds microenvironment and epigenetic drivers of metastasis. Nat Cancer. 2022 Dec 30;
- Fernandez-Rozadilla C, Timofeeva M, Chen Z, Law P, Thomas M, Schmit S, Díez-Obrero V, Hsu L, Fernandez-Tajes J, Palles C, Sherwood K, Briggs S, Svinti V, Donnelly K, Farrington S, Blackmur J, Vaughan-Shaw P, Shu XO, Long J, Cai Q, Guo X, Lu Y, Broderick P, Studd J, Huyghe J, Harrison T, Conti D, Dampier C, Devall M, Schumacher F, Melas M, Rennert G, Obón-Santacana M, Martín-Sánchez V, Moratalla-Navarro F, Oh JH, Kim J, Jee SH, Jung KJ, Kweon SS, Shin MH, Shin A, Ahn YO, Kim DH, Oze I, Wen W, Matsuo K, Matsuda K, Tanikawa C, Ren Z, Gao YT, Jia WH, Hopper J, Jenkins M, Win AK, Pai R, Figueiredo J, Haile R, Gallinger S, Woods M, Newcomb P, Duggan D, Cheadle J, Kaplan R, Maughan T, Kerr R, Kerr D, Kirac I, Böhm J, Mecklin LP, Jousilahti P, Knekt P, Aaltonen L, Rissanen H, Pukkala E, Eriksson J, Cajuso T, Hänninen U, Kondelin J, Palin K, Tanskanen T, Renkonen-Sinisalo L, Zanke B, Männistö S, Albanes D, Weinstein S, Ruiz-Narvaez E, Palmer J, Buchanan D, Platz E, Visvanathan K, Ulrich C, Siegel E, Brezina S, Gsur A, Campbell P, Chang-Claude J, Hoffmeister M, Brenner H, Slattery M, Potter J, Tsilidis K, Schulze M, Gunter M, Murphy N, Castells A, Castellví-Bel S, Moreira L, Arndt V, Shcherbina A, Stern M, Pardamean B, Bishop T, Giles G, Southey M, Idos G, McDonnell K, Abu-Ful Z, Greenson J, Shulman K, Lejbkowicz F, Offit K, Su YR, Steinfelder R, Keku T, van Guelpen B, Hudson T, Hampel H, Pearlman R, Berndt S, Hayes R, Martinez ME, Thomas S, Corley D, Pharoah P, Larsson S, Yen Y, Lenz HJ, White E, Li L, Doheny K, Pugh E, Shelford T, Chan A, Cruz-Correa M, Lindblom A, Hunter D, Joshi A, Schafmayer C, Scacheri P, Kundaje A, Nickerson D, Schoen R, Hampe J, Stadler Z, Vodicka P, Vodickova L, Vymetalkova V, Papadopoulos N, Edlund C, Gauderman W, Thomas D, Shibata D, Toland A, Markowitz S, Kim A, Chanock S, van Duijnhoven F, Feskens E, Sakoda L, Gago-Dominguez M, Wolk A, Naccarati A, Pardini B, FitzGerald L, Lee SC, Ogino S, Bien S, Kooperberg C, Li C, Lin Y, Prentice R, Qu C, Bézieau S, Tangen C, Mardis E, Yamaji T, Sawada N, Iwasaki M, Haiman C, Le Marchand L, Wu A, Qu C, McNeil C, Coetzee G, Hayward C, Deary I, Harris S, Theodoratou E, Reid S, Walker M, Ooi LY, Moreno V, Casey G, Gruber S, Tomlinson I, Zheng W, Dunlop M, Houlston R, Peters U. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nat Genet. 2022 Dec 20;
- Kalathoor S, Rajendran S, Canella A, Raval R, Cripe TP, Mardis ER, Rajappa P. Myeloid cell heterogeneity in the tumor microenvironment and therapeutic implications for childhood central nervous system (CNS) tumors. J Neuroimmunol. 2022 Dec 5; 374: 578009.
- Westfall JJ, Schwind WN, Sran S, Navarro JB, Leonard J, Pindrik JA, Pierson CR, Boué DR, Koboldt DC, Ostendorf AP, Wilson RK, Mardis ER, Miller KE, Bedrosian TA. Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis. Acta Neuropathol Commun. 2022 Nov 21; 10: 168.
- Krysiak K, Danos AM, Saliba J, McMichael JF, Coffman AC, Kiwala S, Barnell EK, Sheta L, Grisdale CJ, Kujan L, Pema S, Lever J, Ridd S, Spies NC, Andric V, Chiorean A, Rieke DT, Clark KA, Reisle C, Venigalla AC, Evans M, Jani P, Takahashi H, Suda A, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Kesserwan C, Lamping M, Shen H, Marr AR, Hoang MH, Singhal K, Khanfar M, Li BV, Lin WH, Terraf P, Corson LB, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, King I, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith M, Griffith OL. CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase. Nucleic Acids Res. 2022 Nov 14;
- Anderson KC, Cantley LC, Dalla-Favera R, Dang CV, Diaz LA, DuBois RN, Flaherty KT, Greenberg PD, Loda M, Mardis ER, Platz EA, Pollak MN, Schreiber RD, Siu LL, Teicher BA. The AACR Journals: Advancing Progress Toward the AACR’s 115-Year Mission. Mol Cancer Ther. 2022 Nov 3; 21: 1625-1631.
- Brenner JL, Jyo EM, Mohammad A, Fox P, Jones V, Mardis E, Schedl T, Maine EM. TRIM-NHL protein, NHL-2, modulates cell fate choices in the C. elegans germ line. Dev Biol. 2022 Sep 3; 491: 43-55.
- Miller AR, Wijeratne S, McGrath SD, Schieffer KM, Miller KE, Lee K, Mathew M, LaHaye S, Fitch JR, Kelly BJ, White P, Mardis ER, Wilson RK, Cottrell CE, Magrini V. Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity. J Mol Diagn. 2022 Sep 30;
- Cripe TP, Hutzen B, Currier MA, Chen CY, Glaspell AM, Sullivan GC, Hurley JM, Deighen MR, Venkataramany AS, Mo X, Stanek JR, Miller AR, Wijeratne S, Magrini V, Mardis ER, Mendell JR, Chandler DS, Wang PY. Leveraging gene therapy to achieve long-term continuous or controllable expression of biotherapeutics. Sci Adv. 2022 Jul 15; 8: eabm1890.
- Koo SC, Schieffer KM, Lee K, Gupta A, Pfau RB, Avenarius MR, Stonerock E, LaHaye S, Fitch J, Setty BA, Roberts R, Ranalli M, Conces MR, Bu F, Mardis ER, Cottrell CE. EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors. Genes Chromosomes Cancer. 2022 Jul 7;
- Larkin K, Nicolet D, Kelly BJ, Mrózek K, LaHaye S, Miller KE, Wijeratne S, Wheeler GL, Kohlschmidt J, Blachly JS, Mims AS, Walker C, Oakes CC, Orwick S, Boateng I, Buss J, Heyrosa A, Desai H, Carroll AJ, Blum W, Powell BL, Kolitz JE, Moore JO, Mayer RJ, Larson RA, Stone RM, Paskett ED, Byrd JC, Mardis E, Eisfeld AK. High early death rates, treatment resistance, and short survival of Black adolescents and young adults with AML. Blood Adv. 2022 Jul 5;
- Skidmore ZL, Kunisaki J, Lin Y, Cotto KC, Barnell EK, Hundal J, Krysiak K, Magrini V, Trani L, Walker JR, Fulton R, Brunt EM, Miller CA, Wilson RK, Mardis ER, Griffith M, Chapman W, Griffith OL. Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers. Cancer Genet. 2022 Jun; 264-265: 90-99.
- Bedrosian TA, Miller KE, Grischow OE, Schieffer KM, LaHaye S, Yoon H, Miller AR, Navarro J, Westfall J, Leraas K, Choi S, Williamson R, Fitch J, Kelly BJ, White P, Lee K, McGrath S, Cottrell CE, Magrini V, Leonard J, Pindrik J, Shaikhouni A, Boué DR, Thomas DL, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Koboldt DC. Detection of brain somatic variation in epilepsy-associated developmental lesions. Epilepsia. 2022 Jun 10;
- De Faria FW, Schieffer KM, Pierson CR, Boue DR, LaHaye S, Miller KE, Amayiri N, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly B, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE, Rusin J, Finlay JL, Osorio DS. Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review. Genes Chromosomes Cancer. 2022 Jun 18;
- Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 May; 3: 522-525.
- Miller KE, Mardis ER. Pediatric CNS cancer genomics and immunogenomics. Curr Opin Genet Dev. 2022 May 23; 75: 101918.
- Hetzel S, Mattei AL, Kretzmer H, Qu C, Chen X, Fan Y, Wu G, Roberts KG, Luger S, Litzow M, Rowe J, Paietta E, Stock W, Mardis ER, Wilson RK, Downing JR, Mullighan CG, Meissner A. Acute lymphoblastic leukemia displays a distinct highly methylated genome. Nat Cancer. 2022 May 19;
- Eteleeb AM, Thunuguntla PK, Gelev KZ, Tang CY, Rozycki EB, Miller A, Lei JT, Jayasinghe RG, Dang HX, White NM, Reis-Filho JS, Mardis ER, Ellis MJ, Ding L, Silva-Fisher JM, Maher CA. LINC00355 regulates p27KIP expression by binding to MENIN to induce proliferation in late-stage relapse breast cancer. NPJ Breast Cancer. 2022 Apr 13; 8: 49.
- Kautto EA, Schieffer KM, McGrath S, Miller AR, Hernandez Gonzalez ME, Choi S, Conces MR, Fernandez-Faith E, Ho ML, Lee K, Lillis AP, Pearson GD, Kaler SG, Wilson RK, Mardis ER, Magrini V, Leonard J, Cottrell CE. Expanding the Clinical Phenotype of FGFR1 Internal Tandem Duplication. Cold Spring Harb Mol Case Stud. 2022 Feb 11;
- Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.
- Baliga S, Matsui J, Klamer B, Cetnar A, Ewing A, Cadieux C, Gupta A, Setty BA, Roberts RD, Olshefski RS, Cripe TP, Scharschmidt TJ, Aldrink J, Mardis E, Yeager ND, Palmer JD. Clinical outcomes and efficacy of stereotactic body radiation therapy in children, adolescents, and young adults with metastatic solid tumors. Br J Radiol. 2022 Feb 10; 20211088.
- Borozan I, Zaidi SH, Harrison TA, Phipps AI, Zheng J, Lee S, Trinh QM, Steinfelder RS, Adams J, Banbury BL, Berndt SI, Brezina S, Buchanan DD, Bullman S, Cao Y, Farris AB 3rd, Figueiredo JC, Giannakis M, Heisler LE, Hopper JL, Lin Y, Luo X, Nishihara R, Mardis ER, Papadopoulos N, Qu C, Reid EEG, Thibodeau SN, Harlid S, Um CY, Hsu L, Gsur A, Campbell PT, Gallinger S, Newcomb PA, Ogino S, Sun W, Hudson TJ, Ferretti V, Peters U. Molecular and Pathology Features of Colorectal Tumors and Patient Outcomes Are Associated with Fusobacterium nucleatum and Its Subspecies animalis. Cancer Epidemiol Biomarkers Prev. 2022 Jan; 31: 210-220.
- Schaettler MO, Richters MM, Wang AZ, Skidmore ZL, Fisk B, Miller KE, Vickery TL, Kim AH, Chicoine MR, Osbun JW, Leuthardt EC, Dowling JL, Zipfel GJ, Dacey RG, Lu HC, Johanns TM, Griffith OL, Mardis ER, Griffith M, Dunn GP. Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis. Cancer Discov. 2022 Jan; 12: 154-171.
- Miller KE, MacDonald JP, Sullivan L, Venkata LPR, Shi J, Yeates KO, Chen S, Alshaikh E, Taylor HG, Hautmann A, Asa N, Cohen DM, Pommering TL, Mardis ER, Yang J, NCH Concussion Research Group.. Salivary miRNA Expression in Children With Persistent Post-concussive Symptoms. Front Public Health. 2022; 10: 890420.
- Miller KE, Wheeler G, LaHaye S, Schieffer KM, Cearlock S, Venkata LPR, Bravo AO, Grischow OE, Kelly BJ, White P, Pierson CR, Boué DR, Koo SC, Klawinski D, Ranalli MA, Shaikhouni A, Salloum R, Shatara M, Leonard JR, Wilson RK, Cottrell CE, Mardis ER, Koboldt DC. Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement. Front Oncol. 2022; 12: 932337.
- Upadhyay R, Yadav D, Venkatesulu BP, Singh R, Baliga S, Raval RR, Lazow MA, Salloum R, Fouladi M, Mardis ER, Zaorsky NG, Trifiletti DM, Paulino AC, Palmer JD. Risk of secondary malignant neoplasms in children following proton therapy vs. photon therapy for primary CNS tumors: A systematic review and meta-analysis. Front Oncol. 2022; 12: 893855.
- Ronsley R, Boué DR, Venkata LPR, Scott S, Shaikhouni A, Jones J, Schieffer KM, Cottrell CE, Mardis ER, Olshefski R, Salloum R, Miller KE. An unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient. Neurooncol Adv. 2022 Jan-Dec; 4: vdac121.
- Lek M, Mardis ER. Envisioning the next human genome reference. Dis Model Mech. 2021 Dec 1; 14:
- Shatara M, Schieffer KM, Klawinski D, Thomas DL, Pierson CR, Sribnick EA, Jones J, Rodriguez DP, Deeg C, Hamelberg E, LaHaye S, Miller KE, Fitch J, Kelly B, Leraas K, Pfau R, White P, Magrini V, Wilson RK, Mardis ER, Abdelbaki MS, Finlay JL, Boué DR, Cottrell CE, Ghasemi DR, Pajtler KW, Osorio DS. Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas. Acta Neuropathol Commun. 2021 Dec 11; 9: 192.
- LaHaye S, Fitch JR, Voytovich KJ, Herman AC, Kelly BJ, Lammi GE, Arbesfeld JA, Wijeratne S, Franklin SJ, Schieffer KM, Bir N, McGrath SD, Miller AR, Wetzel A, Miller KE, Bedrosian TA, Leraas K, Varga EA, Lee K, Gupta A, Setty B, Boué DR, Leonard JR, Finlay JL, Abdelbaki MS, Osorio DS, Koo SC, Koboldt DC, Wagner AH, Eisfeld AK, Mrózek K, Magrini V, Cottrell CE, Mardis ER, Wilson RK, White P. Discovery of clinically relevant fusions in pediatric cancer. BMC Genomics. 2021 Dec 4; 22: 872.
- Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Somatic variation as an incidental finding in the pediatric next-generation sequencing era. Cold Spring Harb Mol Case Stud. 2021 Dec; 7:
- Mardis ER. The emergence of cancer genomics in diagnosis and precision medicine. Nat Cancer. 2021 Dec; 2: 1263-1264.
- Trikha P, Moseman JE, Thakkar A, Campbell AR, Elmas E, Foltz JA, Chakravarti N, Fitch JR, Mardis ER, Lee DA. Defining the AHR-regulated transcriptome in NK cells reveals gene expression programs relevant to development and function. Blood Adv. 2021 Nov 23; 5: 4605-4618.
- Gorsi B, Hernandez E, Moore MB, Moriwaki M, Chow CY, Coelho E, Taylor E, Lu C, Walker A, Touraine P, Nelson LM, Cooper AR, Mardis ER, Rajkovic A, Yandell M, Welt CK. Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency. J Clin Endocrinol Metab. 2021 Oct 26;
- Gupta A, Liu H, Schieffer KM, Koo SC, Cottrell CE, Mardis ER, Roberts RD, Yeager ND. Targeted Therapy in a Young Adult With a Novel Epithelioid Tumor Driven by a PRRC2B-ALK Fusion. J Natl Compr Canc Netw. 2021 Oct 15; 19: 1116-1121.
- Ghonime MG, Saini U, Kelly MC, Roth JC, Wang PY, Chen CY, Miller K, Hernandez-Aguirre I, Kim Y, Mo X, Stanek JR, Cripe T, Mardis E, Cassady KA. Eliciting an immune-mediated antitumor response through oncolytic herpes simplex virus-based shared antigen expression in tumors resistant to viroimmunotherapy. J Immunother Cancer. 2021 Oct; 9:
- Koo SC, LaHaye S, Kovari BP, Schieffer KM, Ranalli MA, Aldrink JH, Michalsky MP, Colace S, Miller KE, Bedrosian TA, Leraas KM, Voytovich K, Wheeler G, Brennan P, Fitch J, Kelly BJ, McGrath SD, Miller AR, White P, Magrini V, Wilson RK, Mardis ER, Lauwers GY, Baker PB, Cottrell CE. Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence. Genes Chromosomes Cancer. 2021 Sep; 60: 640-646.
- Mardis ER. Genomic prediction of neoantigens: immunogenomics before NGS. Nat Rev Genet. 2021 Sep; 22: 550-551.
- Logan SJ, Schieffer KM, Conces MR, Stonerock E, Miller AR, Fitch J, LaHaye S, Voytovich K, McGrath S, Magrini V, White P, Wilson RK, Mardis ER, Cottrell CE, Koo SC. Novel morphologic findings in PLAG1-rearranged soft tissue tumors. Genes Chromosomes Cancer. 2021 Aug; 60: 577-585.
- Wedekind MF, Miller KE, Chen CY, Wang PY, Hutzen BJ, Currier MA, Nartker B, Roberts RD, Boon L, Conner J, LaHaye S, Kelly BJ, Gordon D, White P, Mardis ER, Cripe TP. Endogenous retrovirus envelope as a tumor-associated immunotherapeutic target in murine osteosarcoma. iScience. 2021 Jul 23; 24: 102759.
- Koboldt DC, Miller KE, Miller AR, Bush JM, McGrath S, Leraas K, Crist E, Fair S, Schwind W, Wijeratne S, Fitch J, Leonard J, Shaikhouni A, Hester ME, Magrini V, Ho ML, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Bedrosian TA. PTEN somatic mutations contribute to spectrum of cerebral overgrowth. Brain. 2021 May 28;
- Schieffer KM, Feldman AZ, Kautto EA, McGrath S, Miller AR, Hernandez-Gonzalez ME, LaHaye S, Miller KE, Koboldt DC, Brennan P, Kelly B, Wetzel A, Agarwal V, Shatara M, Conley S, Rodriguez DP, Abu-Arja R, Shaikhkhalil A, Snuderl M, Orr BA, Finlay JL, Osorio DS, Drapeau AI, Leonard JR, Pierson CR, White P, Magrini V, Mardis ER, Wilson RK, Cottrell CE, Boué DR. Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma. Acta Neuropathol Commun. 2021 Apr 7; 9: 61.
- Miller KE, Schieffer KM, Grischow O, Rodriguez DP, Cottrell CE, Leonard JR, Finlay JL, Mardis ER. Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation. Cold Spring Harb Mol Case Stud. 2021 Apr; 7:
- Cable J, Greenbaum B, Pe’er D, Bollard CM, Bruni S, Griffin ME, Allison JP, Wu CJ, Subudhi SK, Mardis ER, Brentjens R, Sosman JA, Cemerski S, Zavitsanou AM, Proia T, Egeblad M, Nolan G, Goswami S, Spranger S, Mackall CL. Frontiers in cancer immunotherapy-a symposium report. Ann N Y Acad Sci. 2021 Apr; 1489: 30-47.
- Collier KA, Asad S, Tallman D, Jenison J, Rajkovic A, Mardis ER, Parsons HA, Tolaney SM, Winer EP, Lin NU, Ha G, Adalsteinsson VA, Stover DG. Association of 17q22 Amplicon Via Cell-Free DNA With Platinum Chemotherapy Response in Metastatic Triple-Negative Breast Cancer. JCO Precis Oncol. 2021; 5:
- Prasad RN, Gardner UG, Yaney A, Prevedello DM, Koboldt DC, Thomas DL, Mardis ER, Palmer JD. Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review. Front Oncol. 2021; 11: 721712.
- Natarajan L, Pu M, Davies SR, Vickery TL, Nelson SH, Pittman E, Parker BA, Ellis MJ, Flatt SW, Mardis ER, Marinac CR, Pierce JP, Messer K. MiRNAs and long-term breast cancer survival: Evidence from the WHEL Study. Cancer Epidemiol Biomarkers Prev. 2019 Jun 11;
- Robinson KM, Yang W, Karol SE, Kornegay N, Jay D, Cheng C, Choi JK, Campana D, Pui CH, Wood B, Borowitz MJ, Gastier-Foster J, Larsen EC, Winick N, Carroll WL, Loh ML, Raetz EA, Hunger SP, Devidas M, Mardis ER, Fulton RS, Relling MV, Jeha S. No evidence that G6PD deficiency affects the efficacy or safety of daunorubicin in acute lymphoblastic leukemia induction therapy. Pediatr Blood Cancer. 2019 Jun; 66: e27681.
- Schieffer KM, Varga E, Miller KE, Agarwal V, Koboldt DC, Brennan P, Kelly B, Dave-Wala A, Pierson CR, Finlay JL, AbdelBaki MS, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE. Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma. Eur J Med Genet. 2019 Jun 10; 103701.
- Darby CA, Fitch JR, Brennan PJ, Kelly BJ, Bir N, Magrini V, Leonard J, Cottrell CE, Gastier-Foster JM, Wilson RK, Mardis ER, White P, Langmead B, Schatz MC. Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads. iScience. 2019 May 29; 18: 1-10.
- Ferreira-Gonzalez A, Mardis ER. Precision oncogenomics. Cold Spring Harb Mol Case Stud. 2019 Apr; 5:
- Brady SW, Ma X, Bahrami A, Satas G, Wu G, Newman S, Rusch M, Putnam DK, Mulder HL, Yergeau DA, Edmonson MN, Easton J, Alexandrov LB, Chen X, Mardis ER, Wilson RK, Downing JR, Pappo AS, Raphael BJ, Dyer MA, Zhang J. The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. Mol Cancer Res. 2019 Apr; 17: 895-906.
- Yusko E, Vignali M, Wilson RK, Mardis ER, Hodi FS, Horak C, Chang H, Woods DM, Robins H, Weber J. Association of Tumor Microenvironment T-cell Repertoire and Mutational Load with Clinical Outcome after Sequential Checkpoint Blockade in Melanoma. Cancer Immunol Res. 2019 Mar; 7: 458-465.
- Haage V, Semtner M, Vidal RO, Hernandez DP, Pong WW, Chen Z, Hambardzumyan D, Magrini V, Ly A, Walker J, Mardis E, Mertins P, Sauer S, Kettenmann H, Gutmann DH. Comprehensive gene expression meta-analysis identifies signature genes that distinguish microglia from peripheral monocytes/macrophages in health and glioma. Acta Neuropathol Commun. 2019 Feb 14; 7: 20.
- Hundal J, Kiwala S, Feng YY, Liu CJ, Govindan R, Chapman WC, Uppaluri R, Swamidass SJ, Griffith OL, Mardis ER, Griffith M. Accounting for proximal variants improves neoantigen prediction. Nat Genet. 2019 Jan; 51: 175-179.
- Johanns TM, Miller CA, Liu CJ, Perrin RJ, Bender D, Kobayashi DK, Campian JL, Chicoine MR, Dacey RG, Huang J, Fritsch EF, Gillanders WE, Artyomov MN, Mardis ER, Schreiber RD, Dunn GP. Detection of neoantigen-specific T cells following a personalized vaccine in a patient with glioblastoma. Oncoimmunology. 2019; 8: e1561106.
- Ainscough BJ, Barnell EK, Ronning P, Campbell KM, Wagner AH, Fehniger TA, Dunn GP, Uppaluri R, Govindan R, Rohan TE, Griffith M, Mardis ER, Swamidass SJ, Griffith OL. A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data. Nat Genet. 2018 Dec; 50: 1735-1743.
- McCombie WR, McPherson JD, Mardis ER. Next-Generation Sequencing Technologies. Cold Spring Harb Perspect Med. 2018 Nov 26;
- Mardis ER. The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic. Cold Spring Harb Perspect Med. 2018 Nov 5;
- Wagner AH, Devarakonda S, Skidmore ZL, Krysiak K, Ramu A, Trani L, Kunisaki J, Masood A, Waqar SN, Spies NC, Morgensztern D, Waligorski J, Ponce J, Fulton RS, Maggi LB Jr, Weber JD, Watson MA, O’Conor CJ, Ritter JH, Olsen RR, Cheng H, Mukhopadhyay A, Can I, Cessna MH, Oliver TG, Mardis ER, Wilson RK, Griffith M, Griffith OL, Govindan R. Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer. Nat Commun. 2018 Sep 17; 9: 3787.
- Stewart E, McEvoy J, Wang H, Chen X, Honnell V, Ocarz M, Gordon B, Dapper J, Blankenship K, Yang Y, Li Y, Shaw TI, Cho JH, Wang X, Xu B, Gupta P, Fan Y, Liu Y, Rusch M, Griffiths L, Jeon J, Freeman BB 3rd, Clay MR, Pappo A, Easton J, Shurtleff S, Shelat A, Zhou X, Boggs K, Mulder H, Yergeau D, Bahrami A, Mardis ER, Wilson RK, Zhang J, Peng J, Downing JR, Dyer MA, St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project.. Identification of Therapeutic Targets in Rhabdomyosarcoma through Integrated Genomic, Epigenomic, and Proteomic Analyses. Cancer Cell. 2018 Sep 10; 34: 411-426.e19.
- Campbell KM, Lin T, Zolkind P, Barnell EK, Skidmore ZL, Winkler AE, Law JH, Mardis ER, Wartman LD, Adkins DR, Chernock RD, Griffith M, Uppaluri R, Griffith OL. Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity. Cell Rep. 2018 Aug 21; 24: 2167-2178.
- Tanioka M, Fan C, Parker JS, Hoadley KA, Hu Z, Li Y, Hyslop TM, Pitcher BN, Soloway MG, Spears PA, Henry LN, Tolaney S, Dang CT, Krop IE, Harris LN, Berry DA, Mardis ER, Winer EP, Hudis CA, Carey LA, Perou CM. Integrated Analysis of RNA and DNA from the Phase III Trial CALGB 40601 Identifies Predictors of Response to Trastuzumab-Based Neoadjuvant Chemotherapy in HER2-Positive Breast Cancer. Clin Cancer Res. 2018 Jul 23;
- Rohan TE, Miller CA, Li T, Wang Y, Loudig O, Ginsberg M, Glass A, Mardis E. Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer. Br J Cancer. 2018 Jun; 118: 1662-1664.
- Berger MF, Mardis ER. The emerging clinical relevance of genomics in cancer medicine. Nat Rev Clin Oncol. 2018 Jun; 15: 353-365.
- Churchman ML, Qian M, Te Kronnie G, Zhang R, Yang W, Zhang H, Lana T, Tedrick P, Baskin R, Verbist K, Peters JL, Devidas M, Larsen E, Moore IM, Gu Z, Qu C, Yoshihara H, Porter SN, Pruett-Miller SM, Wu G, Raetz E, Martin PL, Bowman WP, Winick N, Mardis E, Fulton R, Stanulla M, Evans WE, Relling MV, Pui CH, Hunger SP, Loh ML, Handgretinger R, Nichols KE, Yang JJ, Mullighan CG. Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. Cancer Cell. 2018 May 14; 33: 937-948.e8.
- Mardis ER. Clinical and Genomic Insights from Metastatic Cancers. Clin Chem. 2018 May; 64: 766-768.
- Siegel MB, He X, Hoadley KA, Hoyle A, Pearce JB, Garrett AL, Kumar S, Moylan VJ, Brady CM, Van Swearingen AE, Marron D, Gupta GP, Thorne LB, Kieran N, Livasy C, Mardis ER, Parker JS, Chen M, Anders CK, Carey LA, Perou CM. Integrated RNA and DNA sequencing reveals early drivers of metastatic breast cancer. J Clin Invest. 2018 Apr 2; 128: 1371-1383.
- Miller CA, Dahiya S, Li T, Fulton RS, Smyth MD, Dunn GP, Rubin JB, Mardis ER. Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patient. Cold Spring Harb Mol Case Stud. 2018 Apr; 4:
- White BS, Lanc I, O’Neal J, Gupta H, Fulton RS, Schmidt H, Fronick C, Belter EA Jr, Fiala M, King J, Ahmann GJ, DeRome M, Mardis ER, Vij R, DiPersio JF, Levy J, Auclair D, Tomasson MH. A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5. Blood Cancer J. 2018 Mar 21; 8: 35.
- Mardis E. Many mutations in one clinical-trial basket. Nature. 2018 Feb 8; 554: 173-175.
Biography
Elaine Mardis, PhD, is co-Executive Director of the Institute for Genomic Medicine at Nationwide Children’s Hospital and the Steve and Cindy Rasmussen Endowed Chair in Genomic Medicine. She also is Professor of Pediatrics at The Ohio State University College of Medicine. Dr. Mardis joined Nationwide Children’s Hospital in 2016. Educated at the University of Oklahoma with a B.S. in Zoology and a Ph.D. in Chemistry and Biochemistry, Dr. Mardis did postgraduate work in industry at BioRad Laboratories. She was a member of the faculty of Washington University School of Medicine from 1993-2016. Dr. Mardis has authored over 350 articles in prestigious peer-reviewed journals and has written book chapters for several medical textbooks. She serves as an associate editor for three peer-reviewed journals (Disease Models and Mechanisms, Molecular Cancer Research, and Annals of Oncology) and is Editor-in-Chief of Molecular Case Studies, published by Cold Spring Harbor Press. Dr. Mardis has given lectures at scientific meetings worldwide, and was awarded the Morton K Schwartz award from the American Association for Clinical Chemistry in 2016. She has been listed since 2013 as one of the most highly cited researchers in the world by Thompson Reuters. Dr. Mardis has been a member of the American Association for Cancer Research (AACR) since 2007, was the program committee chair for the 2018 AACR Annual Meeting, and is the AACR President-elect.
See Elaine R. Mardis’s Curriculum Vitae (CV)
Biography
Elaine Mardis, PhD, is co-Executive Director of the Institute for Genomic Medicine at Nationwide Children’s Hospital and the Steve and Cindy Rasmussen Endowed Chair in Genomic Medicine. She also is Professor of Pediatrics at The Ohio State University College of Medicine. Dr. Mardis joined Nationwide Children’s Hospital in 2016. Educated at the University of Oklahoma with a B.S. in Zoology and a Ph.D. in Chemistry and Biochemistry, Dr. Mardis did postgraduate work in industry at BioRad Laboratories. She was a member of the faculty of Washington University School of Medicine from 1993-2016. Dr. Mardis has authored over 350 articles in prestigious peer-reviewed journals and has written book chapters for several medical textbooks. She serves as an associate editor for three peer-reviewed journals (Disease Models and Mechanisms, Molecular Cancer Research, and Annals of Oncology) and is Editor-in-Chief of Molecular Case Studies, published by Cold Spring Harbor Press. Dr. Mardis has given lectures at scientific meetings worldwide, and was awarded the Morton K Schwartz award from the American Association for Clinical Chemistry in 2016. She has been listed since 2013 as one of the most highly cited researchers in the world by Thompson Reuters. Dr. Mardis has been a member of the American Association for Cancer Research (AACR) since 2007, was the program committee chair for the 2018 AACR Annual Meeting, and is the AACR President-elect.
See Elaine R. Mardis’s Curriculum Vitae (CV)
Biography
Elaine Mardis, PhD, is co-Executive Director of the Institute for Genomic Medicine at Nationwide Children’s Hospital and the Steve and Cindy Rasmussen Endowed Chair in Genomic Medicine. She also is Professor of Pediatrics at The Ohio State University College of Medicine. Dr. Mardis joined Nationwide Children’s Hospital in 2016. Educated at the University of Oklahoma with a B.S. in Zoology and a Ph.D. in Chemistry and Biochemistry, Dr. Mardis did postgraduate work in industry at BioRad Laboratories. She was a member of the faculty of Washington University School of Medicine from 1993-2016. Dr. Mardis has authored over 350 articles in prestigious peer-reviewed journals and has written book chapters for several medical textbooks. She serves as an associate editor for three peer-reviewed journals (Disease Models and Mechanisms, Molecular Cancer Research, and Annals of Oncology) and is Editor-in-Chief of Molecular Case Studies, published by Cold Spring Harbor Press. Dr. Mardis has given lectures at scientific meetings worldwide, and was awarded the Morton K Schwartz award from the American Association for Clinical Chemistry in 2016. She has been listed since 2013 as one of the most highly cited researchers in the world by Thompson Reuters. Dr. Mardis has been a member of the American Association for Cancer Research (AACR) since 2007, was the program committee chair for the 2018 AACR Annual Meeting, and is the AACR President-elect.
See Elaine R. Mardis’s Curriculum Vitae (CV)
Elaine Mardis, PhD, is co-Executive Director of the Institute for Genomic Medicine at Nationwide Children’s Hospital and the Steve and Cindy Rasmussen Endowed Chair in Genomic Medicine. She also is Professor of Pediatrics at The Ohio State University College of Medicine. Dr. Mardis joined Nationwide Children’s Hospital in 2016. Educated at the University of Oklahoma with a B.S. in Zoology and a Ph.D. in Chemistry and Biochemistry, Dr. Mardis did postgraduate work in industry at BioRad Laboratories. She was a member of the faculty of Washington University School of Medicine from 1993-2016. Dr. Mardis has authored over 350 articles in prestigious peer-reviewed journals and has written book chapters for several medical textbooks. She serves as an associate editor for three peer-reviewed journals (Disease Models and Mechanisms, Molecular Cancer Research, and Annals of Oncology) and is Editor-in-Chief of Molecular Case Studies, published by Cold Spring Harbor Press. Dr. Mardis has given lectures at scientific meetings worldwide, and was awarded the Morton K Schwartz award from the American Association for Clinical Chemistry in 2016. She has been listed since 2013 as one of the most highly cited researchers in the world by Thompson Reuters. Dr. Mardis has been a member of the American Association for Cancer Research (AACR) since 2007, was the program committee chair for the 2018 AACR Annual Meeting, and is the AACR President-elect.
See Elaine R. Mardis’s Curriculum Vitae (CV)
Elaine Mardis, PhD, is co-Executive Director of the Institute for Genomic Medicine at Nationwide Children’s Hospital and the Steve and Cindy Rasmussen Endowed Chair in Genomic Medicine. She also is Professor of Pediatrics at The Ohio State University College of Medicine. Dr. Mardis joined Nationwide Children’s Hospital in 2016.
Educated at the University of Oklahoma with a B.S. in Zoology and a Ph.D. in Chemistry and Biochemistry, Dr. Mardis did postgraduate work in industry at BioRad Laboratories. She was a member of the faculty of Washington University School of Medicine from 1993-2016. Dr. Mardis has authored over 350 articles in prestigious peer-reviewed journals and has written book chapters for several medical textbooks. She serves as an associate editor for three peer-reviewed journals (Disease Models and Mechanisms, Molecular Cancer Research, and Annals of Oncology) and is Editor-in-Chief of Molecular Case Studies, published by Cold Spring Harbor Press. Dr. Mardis has given lectures at scientific meetings worldwide, and was awarded the Morton K Schwartz award from the American Association for Clinical Chemistry in 2016. She has been listed since 2013 as one of the most highly cited researchers in the world by Thompson Reuters. Dr. Mardis has been a member of the American Association for Cancer Research (AACR) since 2007, was the program committee chair for the 2018 AACR Annual Meeting, and is the AACR President-elect.
See Elaine R. Mardis’s Curriculum Vitae (CV)
Education
Graduate School
University of Oklahoma
Date Completed: 12/31/1989
Undergraduate School
University of Oklahoma
Date Completed: 12/31/1984
Education
Graduate School
University of Oklahoma
Date Completed: 12/31/1989
Undergraduate School
University of Oklahoma
Date Completed: 12/31/1984
Education
Graduate School
University of Oklahoma
Date Completed: 12/31/1989
Undergraduate School
University of Oklahoma
Date Completed: 12/31/1984
Graduate School
University of Oklahoma
Date Completed: 12/31/1989
Undergraduate School
University of Oklahoma
Date Completed: 12/31/1984
Graduate School
University of Oklahoma
Date Completed: 12/31/1989
Undergraduate School
University of Oklahoma
Date Completed: 12/31/1984
Contact Information
Institute for Genomic Medicine
Call us at: (614) 355-6850
Fax us at: (614) 355-6833
575 Children’s CrossroadColumbus, OH 43215 (map)
Contact Information
Institute for Genomic Medicine
Call us at: (614) 355-6850
Fax us at: (614) 355-6833
575 Children’s CrossroadColumbus, OH 43215 (map)
Contact Information
Institute for Genomic Medicine
Call us at: (614) 355-6850
Fax us at: (614) 355-6833
575 Children’s CrossroadColumbus, OH 43215 (map)
Institute for Genomic Medicine
Call us at: (614) 355-6850
Fax us at: (614) 355-6833
575 Children’s CrossroadColumbus, OH 43215 (map)
Call us at: (614) 355-6850
Fax us at: (614) 355-6833
575 Children’s CrossroadColumbus, OH 43215 (map)
Call us at: (614) 355-6850
Fax us at: (614) 355-6833
575 Children’s CrossroadColumbus, OH 43215 (map)
- Call us at:
- (614) 355-6850
- Fax us at:
- (614) 355-6833
- 575 Children’s CrossroadColumbus, OH 43215 (map)
