Catherine E Cottrell

Contact Information

Call us at: (614)722-2866

Institute for Genomic Medicine700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Catherine E Cottrell

Biography

Catherine Cottrell, PhD, is a senior director within the Institute for Genomic Medicine at Nationwide Children’s Hospital. She is an associate professor-clinical within the Departments of Pathology and Pediatrics at The Ohio State University. She is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics and Clinical Molecular Genetics. She completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio. Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, Dr. Cottrell most recently served as director of the Cytogenetics and Molecular Pathology Laboratory, and as an associate professor in the Department of Pathology and Immunology, and Department of Genetics. While at WU, Dr. Cottrell focused on studies of cancer cytogenetics and somatic variant interpretation. Under her direction, WU was among the first academic laboratories in the US to launch a clinical next-generation sequencing assay for the detection of somatic variation in the setting of cancer. She returned to Nationwide Children’s in 2016 with an interest in the development of new clinical diagnostic tests, with a particular concentration on sequencing assays. While at Nationwide Children’s, she contributed to the successful validation and launch of clinical whole exome sequencing, an assay utilized in the laboratory for patients with suspected, but undiagnosed, genetic disease. Her current clinical and research emphasis includes constitutional and somatic genomic analysis in human disease, and best practices in genetic variant interpretation. She is actively involved in the study of mosaicism and disease, with a focus on vascular overgrowth syndromes and novel genotype-phenotype relationships. She currently serves as principal investigator of the IGM translational protocol, Comprehensive Profiling for Cancer and Blood Disorders, aimed at genomic analysis in patients with rare and refractory hematologic disease or cancer. Through a patient focused methodologic approach to the study of disease, this protocol allows for impactful changes in patient management as related to diagnosis, prognosis or treatment regimen on the basis of the obtained genomic analysis.

Academic and Clinical Areas

Clinical Pathology

Director, Institute for Genomic Medicine Clinical Laboratory

Pathology and Laboratory Medicine

Clinical Pathology Team

Pathology Fellowship

Faculty

Primary Department

Institute for Genomic Medicine

Primary Section

Clinical Pathology

Awards, Honors & Organizations

Member, Association of Molecular Pathology, 2013 - Present Member, Association of Molecular Pathology, 2013 - Present Fellow, American College of Medical Genetics and Genomics, 2011 - Present Diplomate, American Board of Medical Genetics and Genomics, 2011 - Present Member, American College of Medical Genetics and Genomics, 2010 - 2011 Member, American Society of Human Genetics, 2002 - Present

Research

View My Publications Publications

                  Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA. PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma. J Invest Dermatol. 2022 Dec 22;  

                


                  Li MM, Cottrell CE, Pullambhatla M, Roy S, Temple-Smolkin RL, Turner SA, Wang K, Zhou Y, Vnencak-Jones CL. Assessments of Somatic Variant Classification Using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists Guidelines: A Report from the Association for Molecular Pathology. J Mol Diagn. 2022 Dec 9;  

                


                  Davies OMT, Ng AT, Tran J, Blumenthal S, Arkin LM, Nopper AJ, Cottrell CE, Garzon M, Siegel DH, Frieden IJ, Drolet BA. Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11. Pediatr Dermatol. 2022 Nov; 39: 914-919.

                


                  Hou YC, Evenson MJ, Corliss MM, Mahapatra L, Aldawood A, Carpentieri DF, Chamlin SL, Kulungowski AM, Madan-Khetarpal S, Sebastian J, Pet MA, Coughlin CC, Willing MC, Pearson GD, Setty BA, El-Haffaf Z, Cottrell CE, Parikh BA, Krysiak K, Schroeder MC, Heusel JW, Neidich JA, Cao Y. A Comparative Analysis of RAS Variants in Patients with Disorders of Somatic Mosaicism. Genet Med. 2022 Nov 29;  

                


                  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;  

                


                  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;  

                


                  Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, Hashimoto S, Humphrey M, Matthews T, Hunter JM, Reshmi S, Schultz M, Lee K, Pfau R, Cottrell C, McBride KL, Navin NE, Chaudhari BP, Leung ML. A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties. J Mol Diagn. 2022 Jun 16;  

                


                  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;  

                


                  Matarneh B, Cottrell CE, Choi S, Pearson G, Fung B, Koo SC, Lillis AP, Ho ML, Fernandez Faith E. KRIT1-positive hyperkeratotic cutaneous capillary venous malformation. Pediatr Dermatol. 2022 Mar; 39: 250-254.

                


                  Hunter JM, Massingham LJ, Manickam K, Bartholomew D, Williamson RK, Schwab JL, Marhabaie M, Siemon A, de Los Reyes E, Reshmi SC, Cottrell CE, Wilson RK, Koboldt DC. Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder. Cold Spring Harb Mol Case Stud. 2022 Feb; 8: 

                


                  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;  

                


                  Halsey JN, Faith EF, Logan SJ, Shenoy A, Schieffer KM, Cottrell CE, Lillis AP, Aldrink JH, Setty BA, Pearson GD. Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature. Case Rep Dermatol Med. 2022; 2022: 8076649.

                


                  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.

                


                  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.

                


                  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: 

                


                  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.

                


                  Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA. Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth. Genet Med. 2021 Oct; 23: 1882-1888.

                


                  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.

                


                  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.

                


                  Davies OMT, Garzon MC, Frieden IJ, Cottrell CE, Gripp KW, Saneto RP, Shwayder T, Mirzaa GM, Drolet BA. Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies. J Am Acad Dermatol. 2021 Jul 6;  

                


                  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: 

                


                  Schieffer KM, Agarwal V, LaHaye S, Miller KE, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly BJ, Crist E, Rusin J, Finlay JL, Osorio DS, Sribnick EA, Leonard JR, Feldman A, Orr BA, Serrano J, Vasudevaraja V, Snuderl M, White P, Magrini V, Wilson RK, Mardis ER, Boué DR, Cottrell CE. YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas. Am J Surg Pathol. 2021 Mar 1; 45: 329-340.

                


                  Barrie ES, Cottrell CE, Gastier-Foster J, Hickey SE, Patel AD, Santoro SL, Alfaro MP. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. Eur J Med Genet. 2019 Aug 12;  103735.

                


                  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.

                


                  McNulty SN, Cottrell CE, Vigh-Conrad KA, Carter JH, Heusel JW, Ansstas G, Dahiya S. Beyond sequence variation: assessment of copy number variation in adult glioblastoma through targeted tumor somatic profiling. Hum Pathol. 2018 Dec 27;  

                


                  Balla A, Hampel KJ, Sharma MK, Cottrell CE, Sidiropoulos N. Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience. J Mol Diagn. 2018 Jul 6;  

                


                  Rosenbaum JN, Bloom R, Forys JT, Hiken J, Armstrong JR, Branson J, McNulty S, Velu PD, Pepin K, Abel H, Cottrell CE, Pfeifer JD, Kulkarni S, Govindan R, Konnick EQ, Lockwood CM, Duncavage EJ. Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer. Mod Pathol. 2018 May; 31: 791-808.

                


                  Steiner JE, Cottrell CE, Streicher JL, Jensen JN, King DM, Burrows PE, Siegel DH, Tollefson MM, Drolet BA, Püttgen KB. Scarring in Patients With PIK3CA-Related Overgrowth Syndromes. JAMA Dermatol. 2018 Apr 1; 154: 452-455.

                


                  Siegel DH, Cottrell CE, Streicher JL, Schilter KF, Basel DG, Baselga E, Burrows PE, Ciliberto HM, Vigh-Conrad KA, Eichenfield LF, Holland KE, Hogeling M, Jensen JN, Kelly ME, Kim W, King DM, McCuaig C, Mueller KA, Pope E, Powell J, Price H, Steiner JE, Frieden IJ, Tollefson MM, Drolet BA. Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics. J Invest Dermatol. 2018 Apr; 138: 957-967.

                


                  Schwetye KE, Gauvain K, Rodriguez D, Cottrell C, Limbrick DD Jr, Schmidt RE, Dahiya S. An 8-Year-Old Girl with A Supratentorial Mass. Brain Pathol. 2018 Jan; 28: 125-126.

                


                  Hucthagowder V, Shenoy A, Corliss M, Vigh-Conrad KA, Storer C, Grange DK, Cottrell CE. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum. Clin Genet. 2017 Jan; 91: 79-85.

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Education

Date of Appointment at Nationwide Children’s Hospital: 11/14/2016

Fellowship

Nationwide Children’s Hospital

Date Completed: 12/10/2010

Graduate School

The Ohio State University

Date Completed: 12/09/2007

Undergraduate School

The Ohio State University

Date Completed: 06/08/2001

Professional Experience

2016 - Present Nationwide Children’s Hospital, Director, Clinical Laboratory, Institute for Genomic Medicine2011 - 2016 Washington University School of Medicine, Assistant Professor of Pathology and Immunology; Assistant Professor of Genetics; Director, Cytogenetics and Molecular Pathology; Medical Director of Genomics and Pathology Services

Contact Information

Institute for Genomic Medicine

Call us at: (614)722-2866

                    700 Children's DriveColumbus, OH 43205 (map)

Contact Information

Call us at: (614)722-2866

Institute for Genomic Medicine700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Catherine E Cottrell

Biography

Catherine Cottrell, PhD, is a senior director within the Institute for Genomic Medicine at Nationwide Children’s Hospital. She is an associate professor-clinical within the Departments of Pathology and Pediatrics at The Ohio State University. She is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics and Clinical Molecular Genetics. She completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio. Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, Dr. Cottrell most recently served as director of the Cytogenetics and Molecular Pathology Laboratory, and as an associate professor in the Department of Pathology and Immunology, and Department of Genetics. While at WU, Dr. Cottrell focused on studies of cancer cytogenetics and somatic variant interpretation. Under her direction, WU was among the first academic laboratories in the US to launch a clinical next-generation sequencing assay for the detection of somatic variation in the setting of cancer. She returned to Nationwide Children’s in 2016 with an interest in the development of new clinical diagnostic tests, with a particular concentration on sequencing assays. While at Nationwide Children’s, she contributed to the successful validation and launch of clinical whole exome sequencing, an assay utilized in the laboratory for patients with suspected, but undiagnosed, genetic disease. Her current clinical and research emphasis includes constitutional and somatic genomic analysis in human disease, and best practices in genetic variant interpretation. She is actively involved in the study of mosaicism and disease, with a focus on vascular overgrowth syndromes and novel genotype-phenotype relationships. She currently serves as principal investigator of the IGM translational protocol, Comprehensive Profiling for Cancer and Blood Disorders, aimed at genomic analysis in patients with rare and refractory hematologic disease or cancer. Through a patient focused methodologic approach to the study of disease, this protocol allows for impactful changes in patient management as related to diagnosis, prognosis or treatment regimen on the basis of the obtained genomic analysis.

Academic and Clinical Areas

Clinical Pathology

Director, Institute for Genomic Medicine Clinical Laboratory

Pathology and Laboratory Medicine

Clinical Pathology Team

Pathology Fellowship

Faculty

Primary Department

Institute for Genomic Medicine

Primary Section

Clinical Pathology

Awards, Honors & Organizations

Member, Association of Molecular Pathology, 2013 - Present Member, Association of Molecular Pathology, 2013 - Present Fellow, American College of Medical Genetics and Genomics, 2011 - Present Diplomate, American Board of Medical Genetics and Genomics, 2011 - Present Member, American College of Medical Genetics and Genomics, 2010 - 2011 Member, American Society of Human Genetics, 2002 - Present

Research

View My Publications Publications

                  Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA. PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma. J Invest Dermatol. 2022 Dec 22;  

                


                  Li MM, Cottrell CE, Pullambhatla M, Roy S, Temple-Smolkin RL, Turner SA, Wang K, Zhou Y, Vnencak-Jones CL. Assessments of Somatic Variant Classification Using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists Guidelines: A Report from the Association for Molecular Pathology. J Mol Diagn. 2022 Dec 9;  

                


                  Davies OMT, Ng AT, Tran J, Blumenthal S, Arkin LM, Nopper AJ, Cottrell CE, Garzon M, Siegel DH, Frieden IJ, Drolet BA. Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11. Pediatr Dermatol. 2022 Nov; 39: 914-919.

                


                  Hou YC, Evenson MJ, Corliss MM, Mahapatra L, Aldawood A, Carpentieri DF, Chamlin SL, Kulungowski AM, Madan-Khetarpal S, Sebastian J, Pet MA, Coughlin CC, Willing MC, Pearson GD, Setty BA, El-Haffaf Z, Cottrell CE, Parikh BA, Krysiak K, Schroeder MC, Heusel JW, Neidich JA, Cao Y. A Comparative Analysis of RAS Variants in Patients with Disorders of Somatic Mosaicism. Genet Med. 2022 Nov 29;  

                


                  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;  

                


                  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;  

                


                  Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, Hashimoto S, Humphrey M, Matthews T, Hunter JM, Reshmi S, Schultz M, Lee K, Pfau R, Cottrell C, McBride KL, Navin NE, Chaudhari BP, Leung ML. A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties. J Mol Diagn. 2022 Jun 16;  

                


                  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;  

                


                  Matarneh B, Cottrell CE, Choi S, Pearson G, Fung B, Koo SC, Lillis AP, Ho ML, Fernandez Faith E. KRIT1-positive hyperkeratotic cutaneous capillary venous malformation. Pediatr Dermatol. 2022 Mar; 39: 250-254.

                


                  Hunter JM, Massingham LJ, Manickam K, Bartholomew D, Williamson RK, Schwab JL, Marhabaie M, Siemon A, de Los Reyes E, Reshmi SC, Cottrell CE, Wilson RK, Koboldt DC. Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder. Cold Spring Harb Mol Case Stud. 2022 Feb; 8: 

                


                  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;  

                


                  Halsey JN, Faith EF, Logan SJ, Shenoy A, Schieffer KM, Cottrell CE, Lillis AP, Aldrink JH, Setty BA, Pearson GD. Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature. Case Rep Dermatol Med. 2022; 2022: 8076649.

                


                  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.

                


                  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.

                


                  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: 

                


                  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.

                


                  Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA. Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth. Genet Med. 2021 Oct; 23: 1882-1888.

                


                  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.

                


                  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.

                


                  Davies OMT, Garzon MC, Frieden IJ, Cottrell CE, Gripp KW, Saneto RP, Shwayder T, Mirzaa GM, Drolet BA. Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies. J Am Acad Dermatol. 2021 Jul 6;  

                


                  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: 

                


                  Schieffer KM, Agarwal V, LaHaye S, Miller KE, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly BJ, Crist E, Rusin J, Finlay JL, Osorio DS, Sribnick EA, Leonard JR, Feldman A, Orr BA, Serrano J, Vasudevaraja V, Snuderl M, White P, Magrini V, Wilson RK, Mardis ER, Boué DR, Cottrell CE. YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas. Am J Surg Pathol. 2021 Mar 1; 45: 329-340.

                


                  Barrie ES, Cottrell CE, Gastier-Foster J, Hickey SE, Patel AD, Santoro SL, Alfaro MP. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. Eur J Med Genet. 2019 Aug 12;  103735.

                


                  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.

                


                  McNulty SN, Cottrell CE, Vigh-Conrad KA, Carter JH, Heusel JW, Ansstas G, Dahiya S. Beyond sequence variation: assessment of copy number variation in adult glioblastoma through targeted tumor somatic profiling. Hum Pathol. 2018 Dec 27;  

                


                  Balla A, Hampel KJ, Sharma MK, Cottrell CE, Sidiropoulos N. Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience. J Mol Diagn. 2018 Jul 6;  

                


                  Rosenbaum JN, Bloom R, Forys JT, Hiken J, Armstrong JR, Branson J, McNulty S, Velu PD, Pepin K, Abel H, Cottrell CE, Pfeifer JD, Kulkarni S, Govindan R, Konnick EQ, Lockwood CM, Duncavage EJ. Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer. Mod Pathol. 2018 May; 31: 791-808.

                


                  Steiner JE, Cottrell CE, Streicher JL, Jensen JN, King DM, Burrows PE, Siegel DH, Tollefson MM, Drolet BA, Püttgen KB. Scarring in Patients With PIK3CA-Related Overgrowth Syndromes. JAMA Dermatol. 2018 Apr 1; 154: 452-455.

                


                  Siegel DH, Cottrell CE, Streicher JL, Schilter KF, Basel DG, Baselga E, Burrows PE, Ciliberto HM, Vigh-Conrad KA, Eichenfield LF, Holland KE, Hogeling M, Jensen JN, Kelly ME, Kim W, King DM, McCuaig C, Mueller KA, Pope E, Powell J, Price H, Steiner JE, Frieden IJ, Tollefson MM, Drolet BA. Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics. J Invest Dermatol. 2018 Apr; 138: 957-967.

                


                  Schwetye KE, Gauvain K, Rodriguez D, Cottrell C, Limbrick DD Jr, Schmidt RE, Dahiya S. An 8-Year-Old Girl with A Supratentorial Mass. Brain Pathol. 2018 Jan; 28: 125-126.

                


                  Hucthagowder V, Shenoy A, Corliss M, Vigh-Conrad KA, Storer C, Grange DK, Cottrell CE. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum. Clin Genet. 2017 Jan; 91: 79-85.

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Education

Date of Appointment at Nationwide Children’s Hospital: 11/14/2016

Fellowship

Nationwide Children’s Hospital

Date Completed: 12/10/2010

Graduate School

The Ohio State University

Date Completed: 12/09/2007

Undergraduate School

The Ohio State University

Date Completed: 06/08/2001

Professional Experience

2016 - Present Nationwide Children’s Hospital, Director, Clinical Laboratory, Institute for Genomic Medicine2011 - 2016 Washington University School of Medicine, Assistant Professor of Pathology and Immunology; Assistant Professor of Genetics; Director, Cytogenetics and Molecular Pathology; Medical Director of Genomics and Pathology Services

Contact Information

Institute for Genomic Medicine

Call us at: (614)722-2866

                    700 Children's DriveColumbus, OH 43205 (map)

Contact Information

Call us at: (614)722-2866

Institute for Genomic Medicine700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Catherine E Cottrell

Contact Information

• Call us at:
• (614)722-2866
• Institute for Genomic Medicine700 Children’s DriveColumbus, OH 43205 (map)

Learn more about Catherine E Cottrell

Biography

Catherine Cottrell, PhD, is a senior director within the Institute for Genomic Medicine at Nationwide Children’s Hospital. She is an associate professor-clinical within the Departments of Pathology and Pediatrics at The Ohio State University. She is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics and Clinical Molecular Genetics. She completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio. Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, Dr. Cottrell most recently served as director of the Cytogenetics and Molecular Pathology Laboratory, and as an associate professor in the Department of Pathology and Immunology, and Department of Genetics. While at WU, Dr. Cottrell focused on studies of cancer cytogenetics and somatic variant interpretation. Under her direction, WU was among the first academic laboratories in the US to launch a clinical next-generation sequencing assay for the detection of somatic variation in the setting of cancer. She returned to Nationwide Children’s in 2016 with an interest in the development of new clinical diagnostic tests, with a particular concentration on sequencing assays. While at Nationwide Children’s, she contributed to the successful validation and launch of clinical whole exome sequencing, an assay utilized in the laboratory for patients with suspected, but undiagnosed, genetic disease. Her current clinical and research emphasis includes constitutional and somatic genomic analysis in human disease, and best practices in genetic variant interpretation. She is actively involved in the study of mosaicism and disease, with a focus on vascular overgrowth syndromes and novel genotype-phenotype relationships. She currently serves as principal investigator of the IGM translational protocol, Comprehensive Profiling for Cancer and Blood Disorders, aimed at genomic analysis in patients with rare and refractory hematologic disease or cancer. Through a patient focused methodologic approach to the study of disease, this protocol allows for impactful changes in patient management as related to diagnosis, prognosis or treatment regimen on the basis of the obtained genomic analysis.

Biography

Catherine Cottrell, PhD, is a senior director within the Institute for Genomic Medicine at Nationwide Children’s Hospital. She is an associate professor-clinical within the Departments of Pathology and Pediatrics at The Ohio State University. She is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics and Clinical Molecular Genetics. She completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio. Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, Dr. Cottrell most recently served as director of the Cytogenetics and Molecular Pathology Laboratory, and as an associate professor in the Department of Pathology and Immunology, and Department of Genetics. While at WU, Dr. Cottrell focused on studies of cancer cytogenetics and somatic variant interpretation. Under her direction, WU was among the first academic laboratories in the US to launch a clinical next-generation sequencing assay for the detection of somatic variation in the setting of cancer. She returned to Nationwide Children’s in 2016 with an interest in the development of new clinical diagnostic tests, with a particular concentration on sequencing assays. While at Nationwide Children’s, she contributed to the successful validation and launch of clinical whole exome sequencing, an assay utilized in the laboratory for patients with suspected, but undiagnosed, genetic disease. Her current clinical and research emphasis includes constitutional and somatic genomic analysis in human disease, and best practices in genetic variant interpretation. She is actively involved in the study of mosaicism and disease, with a focus on vascular overgrowth syndromes and novel genotype-phenotype relationships. She currently serves as principal investigator of the IGM translational protocol, Comprehensive Profiling for Cancer and Blood Disorders, aimed at genomic analysis in patients with rare and refractory hematologic disease or cancer. Through a patient focused methodologic approach to the study of disease, this protocol allows for impactful changes in patient management as related to diagnosis, prognosis or treatment regimen on the basis of the obtained genomic analysis.

Biography

Catherine Cottrell, PhD, is a senior director within the Institute for Genomic Medicine at Nationwide Children’s Hospital. She is an associate professor-clinical within the Departments of Pathology and Pediatrics at The Ohio State University. She is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics and Clinical Molecular Genetics. She completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio. Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, Dr. Cottrell most recently served as director of the Cytogenetics and Molecular Pathology Laboratory, and as an associate professor in the Department of Pathology and Immunology, and Department of Genetics. While at WU, Dr. Cottrell focused on studies of cancer cytogenetics and somatic variant interpretation. Under her direction, WU was among the first academic laboratories in the US to launch a clinical next-generation sequencing assay for the detection of somatic variation in the setting of cancer. She returned to Nationwide Children’s in 2016 with an interest in the development of new clinical diagnostic tests, with a particular concentration on sequencing assays. While at Nationwide Children’s, she contributed to the successful validation and launch of clinical whole exome sequencing, an assay utilized in the laboratory for patients with suspected, but undiagnosed, genetic disease. Her current clinical and research emphasis includes constitutional and somatic genomic analysis in human disease, and best practices in genetic variant interpretation. She is actively involved in the study of mosaicism and disease, with a focus on vascular overgrowth syndromes and novel genotype-phenotype relationships. She currently serves as principal investigator of the IGM translational protocol, Comprehensive Profiling for Cancer and Blood Disorders, aimed at genomic analysis in patients with rare and refractory hematologic disease or cancer. Through a patient focused methodologic approach to the study of disease, this protocol allows for impactful changes in patient management as related to diagnosis, prognosis or treatment regimen on the basis of the obtained genomic analysis.

Catherine Cottrell, PhD, is a senior director within the Institute for Genomic Medicine at Nationwide Children’s Hospital. She is an associate professor-clinical within the Departments of Pathology and Pediatrics at The Ohio State University. She is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics and Clinical Molecular Genetics. She completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio. Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, Dr. Cottrell most recently served as director of the Cytogenetics and Molecular Pathology Laboratory, and as an associate professor in the Department of Pathology and Immunology, and Department of Genetics. While at WU, Dr. Cottrell focused on studies of cancer cytogenetics and somatic variant interpretation. Under her direction, WU was among the first academic laboratories in the US to launch a clinical next-generation sequencing assay for the detection of somatic variation in the setting of cancer. She returned to Nationwide Children’s in 2016 with an interest in the development of new clinical diagnostic tests, with a particular concentration on sequencing assays. While at Nationwide Children’s, she contributed to the successful validation and launch of clinical whole exome sequencing, an assay utilized in the laboratory for patients with suspected, but undiagnosed, genetic disease. Her current clinical and research emphasis includes constitutional and somatic genomic analysis in human disease, and best practices in genetic variant interpretation. She is actively involved in the study of mosaicism and disease, with a focus on vascular overgrowth syndromes and novel genotype-phenotype relationships. She currently serves as principal investigator of the IGM translational protocol, Comprehensive Profiling for Cancer and Blood Disorders, aimed at genomic analysis in patients with rare and refractory hematologic disease or cancer. Through a patient focused methodologic approach to the study of disease, this protocol allows for impactful changes in patient management as related to diagnosis, prognosis or treatment regimen on the basis of the obtained genomic analysis.

Catherine Cottrell, PhD, is a senior director within the Institute for Genomic Medicine at Nationwide Children’s Hospital. She is an associate professor-clinical within the Departments of Pathology and Pediatrics at The Ohio State University. She is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics and Clinical Molecular Genetics. She completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio. Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, Dr. Cottrell most recently served as director of the Cytogenetics and Molecular Pathology Laboratory, and as an associate professor in the Department of Pathology and Immunology, and Department of Genetics. While at WU, Dr. Cottrell focused on studies of cancer cytogenetics and somatic variant interpretation. Under her direction, WU was among the first academic laboratories in the US to launch a clinical next-generation sequencing assay for the detection of somatic variation in the setting of cancer. She returned to Nationwide Children’s in 2016 with an interest in the development of new clinical diagnostic tests, with a particular concentration on sequencing assays.

While at Nationwide Children’s, she contributed to the successful validation and launch of clinical whole exome sequencing, an assay utilized in the laboratory for patients with suspected, but undiagnosed, genetic disease. Her current clinical and research emphasis includes constitutional and somatic genomic analysis in human disease, and best practices in genetic variant interpretation. She is actively involved in the study of mosaicism and disease, with a focus on vascular overgrowth syndromes and novel genotype-phenotype relationships. She currently serves as principal investigator of the IGM translational protocol, Comprehensive Profiling for Cancer and Blood Disorders, aimed at genomic analysis in patients with rare and refractory hematologic disease or cancer. Through a patient focused methodologic approach to the study of disease, this protocol allows for impactful changes in patient management as related to diagnosis, prognosis or treatment regimen on the basis of the obtained genomic analysis.

Academic and Clinical Areas

Clinical Pathology

Director, Institute for Genomic Medicine Clinical Laboratory

Pathology and Laboratory Medicine

Clinical Pathology Team

Pathology Fellowship

Faculty

Primary Department

Institute for Genomic Medicine

Primary Section

Clinical Pathology

Academic and Clinical Areas

Clinical Pathology

Director, Institute for Genomic Medicine Clinical Laboratory

Pathology and Laboratory Medicine

Clinical Pathology Team

Pathology Fellowship

Faculty

Primary Department

Institute for Genomic Medicine

Primary Section

Clinical Pathology

Academic and Clinical Areas

Clinical Pathology

Director, Institute for Genomic Medicine Clinical Laboratory

Pathology and Laboratory Medicine

Clinical Pathology Team

Pathology Fellowship

Faculty

Primary Department

Institute for Genomic Medicine

Primary Section

Clinical Pathology

Clinical Pathology

Director, Institute for Genomic Medicine Clinical Laboratory

Pathology and Laboratory Medicine

Clinical Pathology Team

Pathology Fellowship

Faculty

Primary Department

Institute for Genomic Medicine

Primary Section

Clinical Pathology

• Clinical Pathology
• Director, Institute for Genomic Medicine Clinical Laboratory
• Pathology and Laboratory Medicine
• Clinical Pathology Team
• Pathology Fellowship
• Faculty
• Primary Department
• Institute for Genomic Medicine
• Primary Section
• Clinical Pathology

Awards, Honors & Organizations

Member, Association of Molecular Pathology, 2013 - Present Member, Association of Molecular Pathology, 2013 - Present Fellow, American College of Medical Genetics and Genomics, 2011 - Present Diplomate, American Board of Medical Genetics and Genomics, 2011 - Present Member, American College of Medical Genetics and Genomics, 2010 - 2011 Member, American Society of Human Genetics, 2002 - Present

Awards, Honors & Organizations

Member, Association of Molecular Pathology, 2013 - Present Member, Association of Molecular Pathology, 2013 - Present Fellow, American College of Medical Genetics and Genomics, 2011 - Present Diplomate, American Board of Medical Genetics and Genomics, 2011 - Present Member, American College of Medical Genetics and Genomics, 2010 - 2011 Member, American Society of Human Genetics, 2002 - Present

Awards, Honors & Organizations

Member, Association of Molecular Pathology, 2013 - Present Member, Association of Molecular Pathology, 2013 - Present Fellow, American College of Medical Genetics and Genomics, 2011 - Present Diplomate, American Board of Medical Genetics and Genomics, 2011 - Present Member, American College of Medical Genetics and Genomics, 2010 - 2011 Member, American Society of Human Genetics, 2002 - Present

Member, Association of Molecular Pathology, 2013 - Present Member, Association of Molecular Pathology, 2013 - Present Fellow, American College of Medical Genetics and Genomics, 2011 - Present Diplomate, American Board of Medical Genetics and Genomics, 2011 - Present Member, American College of Medical Genetics and Genomics, 2010 - 2011 Member, American Society of Human Genetics, 2002 - Present

• Member, Association of Molecular Pathology, 2013 - Present
• Member, Association of Molecular Pathology, 2013 - Present
• Fellow, American College of Medical Genetics and Genomics, 2011 - Present
• Diplomate, American Board of Medical Genetics and Genomics, 2011 - Present
• Member, American College of Medical Genetics and Genomics, 2010 - 2011
• Member, American Society of Human Genetics, 2002 - Present

Research

View My Publications Publications

                  Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA. PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma. J Invest Dermatol. 2022 Dec 22;  

                


                  Li MM, Cottrell CE, Pullambhatla M, Roy S, Temple-Smolkin RL, Turner SA, Wang K, Zhou Y, Vnencak-Jones CL. Assessments of Somatic Variant Classification Using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists Guidelines: A Report from the Association for Molecular Pathology. J Mol Diagn. 2022 Dec 9;  

                


                  Davies OMT, Ng AT, Tran J, Blumenthal S, Arkin LM, Nopper AJ, Cottrell CE, Garzon M, Siegel DH, Frieden IJ, Drolet BA. Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11. Pediatr Dermatol. 2022 Nov; 39: 914-919.

                


                  Hou YC, Evenson MJ, Corliss MM, Mahapatra L, Aldawood A, Carpentieri DF, Chamlin SL, Kulungowski AM, Madan-Khetarpal S, Sebastian J, Pet MA, Coughlin CC, Willing MC, Pearson GD, Setty BA, El-Haffaf Z, Cottrell CE, Parikh BA, Krysiak K, Schroeder MC, Heusel JW, Neidich JA, Cao Y. A Comparative Analysis of RAS Variants in Patients with Disorders of Somatic Mosaicism. Genet Med. 2022 Nov 29;  

                


                  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;  

                


                  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;  

                


                  Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, Hashimoto S, Humphrey M, Matthews T, Hunter JM, Reshmi S, Schultz M, Lee K, Pfau R, Cottrell C, McBride KL, Navin NE, Chaudhari BP, Leung ML. A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties. J Mol Diagn. 2022 Jun 16;  

                


                  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;  

                


                  Matarneh B, Cottrell CE, Choi S, Pearson G, Fung B, Koo SC, Lillis AP, Ho ML, Fernandez Faith E. KRIT1-positive hyperkeratotic cutaneous capillary venous malformation. Pediatr Dermatol. 2022 Mar; 39: 250-254.

                


                  Hunter JM, Massingham LJ, Manickam K, Bartholomew D, Williamson RK, Schwab JL, Marhabaie M, Siemon A, de Los Reyes E, Reshmi SC, Cottrell CE, Wilson RK, Koboldt DC. Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder. Cold Spring Harb Mol Case Stud. 2022 Feb; 8: 

                


                  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;  

                


                  Halsey JN, Faith EF, Logan SJ, Shenoy A, Schieffer KM, Cottrell CE, Lillis AP, Aldrink JH, Setty BA, Pearson GD. Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature. Case Rep Dermatol Med. 2022; 2022: 8076649.

                


                  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.

                


                  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.

                


                  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: 

                


                  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.

                


                  Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA. Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth. Genet Med. 2021 Oct; 23: 1882-1888.

                


                  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.

                


                  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.

                


                  Davies OMT, Garzon MC, Frieden IJ, Cottrell CE, Gripp KW, Saneto RP, Shwayder T, Mirzaa GM, Drolet BA. Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies. J Am Acad Dermatol. 2021 Jul 6;  

                


                  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: 

                


                  Schieffer KM, Agarwal V, LaHaye S, Miller KE, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly BJ, Crist E, Rusin J, Finlay JL, Osorio DS, Sribnick EA, Leonard JR, Feldman A, Orr BA, Serrano J, Vasudevaraja V, Snuderl M, White P, Magrini V, Wilson RK, Mardis ER, Boué DR, Cottrell CE. YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas. Am J Surg Pathol. 2021 Mar 1; 45: 329-340.

                


                  Barrie ES, Cottrell CE, Gastier-Foster J, Hickey SE, Patel AD, Santoro SL, Alfaro MP. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. Eur J Med Genet. 2019 Aug 12;  103735.

                


                  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.

                


                  McNulty SN, Cottrell CE, Vigh-Conrad KA, Carter JH, Heusel JW, Ansstas G, Dahiya S. Beyond sequence variation: assessment of copy number variation in adult glioblastoma through targeted tumor somatic profiling. Hum Pathol. 2018 Dec 27;  

                


                  Balla A, Hampel KJ, Sharma MK, Cottrell CE, Sidiropoulos N. Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience. J Mol Diagn. 2018 Jul 6;  

                


                  Rosenbaum JN, Bloom R, Forys JT, Hiken J, Armstrong JR, Branson J, McNulty S, Velu PD, Pepin K, Abel H, Cottrell CE, Pfeifer JD, Kulkarni S, Govindan R, Konnick EQ, Lockwood CM, Duncavage EJ. Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer. Mod Pathol. 2018 May; 31: 791-808.

                


                  Steiner JE, Cottrell CE, Streicher JL, Jensen JN, King DM, Burrows PE, Siegel DH, Tollefson MM, Drolet BA, Püttgen KB. Scarring in Patients With PIK3CA-Related Overgrowth Syndromes. JAMA Dermatol. 2018 Apr 1; 154: 452-455.

                


                  Siegel DH, Cottrell CE, Streicher JL, Schilter KF, Basel DG, Baselga E, Burrows PE, Ciliberto HM, Vigh-Conrad KA, Eichenfield LF, Holland KE, Hogeling M, Jensen JN, Kelly ME, Kim W, King DM, McCuaig C, Mueller KA, Pope E, Powell J, Price H, Steiner JE, Frieden IJ, Tollefson MM, Drolet BA. Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics. J Invest Dermatol. 2018 Apr; 138: 957-967.

                


                  Schwetye KE, Gauvain K, Rodriguez D, Cottrell C, Limbrick DD Jr, Schmidt RE, Dahiya S. An 8-Year-Old Girl with A Supratentorial Mass. Brain Pathol. 2018 Jan; 28: 125-126.

                


                  Hucthagowder V, Shenoy A, Corliss M, Vigh-Conrad KA, Storer C, Grange DK, Cottrell CE. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum. Clin Genet. 2017 Jan; 91: 79-85.

View More Publications

Research

View My Publications Publications

                  Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA. PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma. J Invest Dermatol. 2022 Dec 22;  

                


                  Li MM, Cottrell CE, Pullambhatla M, Roy S, Temple-Smolkin RL, Turner SA, Wang K, Zhou Y, Vnencak-Jones CL. Assessments of Somatic Variant Classification Using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists Guidelines: A Report from the Association for Molecular Pathology. J Mol Diagn. 2022 Dec 9;  

                


                  Davies OMT, Ng AT, Tran J, Blumenthal S, Arkin LM, Nopper AJ, Cottrell CE, Garzon M, Siegel DH, Frieden IJ, Drolet BA. Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11. Pediatr Dermatol. 2022 Nov; 39: 914-919.

                


                  Hou YC, Evenson MJ, Corliss MM, Mahapatra L, Aldawood A, Carpentieri DF, Chamlin SL, Kulungowski AM, Madan-Khetarpal S, Sebastian J, Pet MA, Coughlin CC, Willing MC, Pearson GD, Setty BA, El-Haffaf Z, Cottrell CE, Parikh BA, Krysiak K, Schroeder MC, Heusel JW, Neidich JA, Cao Y. A Comparative Analysis of RAS Variants in Patients with Disorders of Somatic Mosaicism. Genet Med. 2022 Nov 29;  

                


                  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;  

                


                  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;  

                


                  Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, Hashimoto S, Humphrey M, Matthews T, Hunter JM, Reshmi S, Schultz M, Lee K, Pfau R, Cottrell C, McBride KL, Navin NE, Chaudhari BP, Leung ML. A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties. J Mol Diagn. 2022 Jun 16;  

                


                  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;  

                


                  Matarneh B, Cottrell CE, Choi S, Pearson G, Fung B, Koo SC, Lillis AP, Ho ML, Fernandez Faith E. KRIT1-positive hyperkeratotic cutaneous capillary venous malformation. Pediatr Dermatol. 2022 Mar; 39: 250-254.

                


                  Hunter JM, Massingham LJ, Manickam K, Bartholomew D, Williamson RK, Schwab JL, Marhabaie M, Siemon A, de Los Reyes E, Reshmi SC, Cottrell CE, Wilson RK, Koboldt DC. Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder. Cold Spring Harb Mol Case Stud. 2022 Feb; 8: 

                


                  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;  

                


                  Halsey JN, Faith EF, Logan SJ, Shenoy A, Schieffer KM, Cottrell CE, Lillis AP, Aldrink JH, Setty BA, Pearson GD. Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature. Case Rep Dermatol Med. 2022; 2022: 8076649.

                


                  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.

                


                  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.

                


                  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: 

                


                  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.

                


                  Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA. Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth. Genet Med. 2021 Oct; 23: 1882-1888.

                


                  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.

                


                  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.

                


                  Davies OMT, Garzon MC, Frieden IJ, Cottrell CE, Gripp KW, Saneto RP, Shwayder T, Mirzaa GM, Drolet BA. Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies. J Am Acad Dermatol. 2021 Jul 6;  

                


                  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: 

                


                  Schieffer KM, Agarwal V, LaHaye S, Miller KE, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly BJ, Crist E, Rusin J, Finlay JL, Osorio DS, Sribnick EA, Leonard JR, Feldman A, Orr BA, Serrano J, Vasudevaraja V, Snuderl M, White P, Magrini V, Wilson RK, Mardis ER, Boué DR, Cottrell CE. YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas. Am J Surg Pathol. 2021 Mar 1; 45: 329-340.

                


                  Barrie ES, Cottrell CE, Gastier-Foster J, Hickey SE, Patel AD, Santoro SL, Alfaro MP. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. Eur J Med Genet. 2019 Aug 12;  103735.

                


                  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.

                


                  McNulty SN, Cottrell CE, Vigh-Conrad KA, Carter JH, Heusel JW, Ansstas G, Dahiya S. Beyond sequence variation: assessment of copy number variation in adult glioblastoma through targeted tumor somatic profiling. Hum Pathol. 2018 Dec 27;  

                


                  Balla A, Hampel KJ, Sharma MK, Cottrell CE, Sidiropoulos N. Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience. J Mol Diagn. 2018 Jul 6;  

                


                  Rosenbaum JN, Bloom R, Forys JT, Hiken J, Armstrong JR, Branson J, McNulty S, Velu PD, Pepin K, Abel H, Cottrell CE, Pfeifer JD, Kulkarni S, Govindan R, Konnick EQ, Lockwood CM, Duncavage EJ. Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer. Mod Pathol. 2018 May; 31: 791-808.

                


                  Steiner JE, Cottrell CE, Streicher JL, Jensen JN, King DM, Burrows PE, Siegel DH, Tollefson MM, Drolet BA, Püttgen KB. Scarring in Patients With PIK3CA-Related Overgrowth Syndromes. JAMA Dermatol. 2018 Apr 1; 154: 452-455.

                


                  Siegel DH, Cottrell CE, Streicher JL, Schilter KF, Basel DG, Baselga E, Burrows PE, Ciliberto HM, Vigh-Conrad KA, Eichenfield LF, Holland KE, Hogeling M, Jensen JN, Kelly ME, Kim W, King DM, McCuaig C, Mueller KA, Pope E, Powell J, Price H, Steiner JE, Frieden IJ, Tollefson MM, Drolet BA. Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics. J Invest Dermatol. 2018 Apr; 138: 957-967.

                


                  Schwetye KE, Gauvain K, Rodriguez D, Cottrell C, Limbrick DD Jr, Schmidt RE, Dahiya S. An 8-Year-Old Girl with A Supratentorial Mass. Brain Pathol. 2018 Jan; 28: 125-126.

                


                  Hucthagowder V, Shenoy A, Corliss M, Vigh-Conrad KA, Storer C, Grange DK, Cottrell CE. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum. Clin Genet. 2017 Jan; 91: 79-85.

View More Publications

Research

View My Publications Publications

                  Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA. PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma. J Invest Dermatol. 2022 Dec 22;  

                


                  Li MM, Cottrell CE, Pullambhatla M, Roy S, Temple-Smolkin RL, Turner SA, Wang K, Zhou Y, Vnencak-Jones CL. Assessments of Somatic Variant Classification Using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists Guidelines: A Report from the Association for Molecular Pathology. J Mol Diagn. 2022 Dec 9;  

                


                  Davies OMT, Ng AT, Tran J, Blumenthal S, Arkin LM, Nopper AJ, Cottrell CE, Garzon M, Siegel DH, Frieden IJ, Drolet BA. Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11. Pediatr Dermatol. 2022 Nov; 39: 914-919.

                


                  Hou YC, Evenson MJ, Corliss MM, Mahapatra L, Aldawood A, Carpentieri DF, Chamlin SL, Kulungowski AM, Madan-Khetarpal S, Sebastian J, Pet MA, Coughlin CC, Willing MC, Pearson GD, Setty BA, El-Haffaf Z, Cottrell CE, Parikh BA, Krysiak K, Schroeder MC, Heusel JW, Neidich JA, Cao Y. A Comparative Analysis of RAS Variants in Patients with Disorders of Somatic Mosaicism. Genet Med. 2022 Nov 29;  

                


                  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;  

                


                  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;  

                


                  Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, Hashimoto S, Humphrey M, Matthews T, Hunter JM, Reshmi S, Schultz M, Lee K, Pfau R, Cottrell C, McBride KL, Navin NE, Chaudhari BP, Leung ML. A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties. J Mol Diagn. 2022 Jun 16;  

                


                  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;  

                


                  Matarneh B, Cottrell CE, Choi S, Pearson G, Fung B, Koo SC, Lillis AP, Ho ML, Fernandez Faith E. KRIT1-positive hyperkeratotic cutaneous capillary venous malformation. Pediatr Dermatol. 2022 Mar; 39: 250-254.

                


                  Hunter JM, Massingham LJ, Manickam K, Bartholomew D, Williamson RK, Schwab JL, Marhabaie M, Siemon A, de Los Reyes E, Reshmi SC, Cottrell CE, Wilson RK, Koboldt DC. Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder. Cold Spring Harb Mol Case Stud. 2022 Feb; 8: 

                


                  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;  

                


                  Halsey JN, Faith EF, Logan SJ, Shenoy A, Schieffer KM, Cottrell CE, Lillis AP, Aldrink JH, Setty BA, Pearson GD. Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature. Case Rep Dermatol Med. 2022; 2022: 8076649.

                


                  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.

                


                  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.

                


                  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: 

                


                  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.

                


                  Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA. Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth. Genet Med. 2021 Oct; 23: 1882-1888.

                


                  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.

                


                  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.

                


                  Davies OMT, Garzon MC, Frieden IJ, Cottrell CE, Gripp KW, Saneto RP, Shwayder T, Mirzaa GM, Drolet BA. Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies. J Am Acad Dermatol. 2021 Jul 6;  

                


                  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: 

                


                  Schieffer KM, Agarwal V, LaHaye S, Miller KE, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly BJ, Crist E, Rusin J, Finlay JL, Osorio DS, Sribnick EA, Leonard JR, Feldman A, Orr BA, Serrano J, Vasudevaraja V, Snuderl M, White P, Magrini V, Wilson RK, Mardis ER, Boué DR, Cottrell CE. YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas. Am J Surg Pathol. 2021 Mar 1; 45: 329-340.

                


                  Barrie ES, Cottrell CE, Gastier-Foster J, Hickey SE, Patel AD, Santoro SL, Alfaro MP. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. Eur J Med Genet. 2019 Aug 12;  103735.

                


                  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.

                


                  McNulty SN, Cottrell CE, Vigh-Conrad KA, Carter JH, Heusel JW, Ansstas G, Dahiya S. Beyond sequence variation: assessment of copy number variation in adult glioblastoma through targeted tumor somatic profiling. Hum Pathol. 2018 Dec 27;  

                


                  Balla A, Hampel KJ, Sharma MK, Cottrell CE, Sidiropoulos N. Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience. J Mol Diagn. 2018 Jul 6;  

                


                  Rosenbaum JN, Bloom R, Forys JT, Hiken J, Armstrong JR, Branson J, McNulty S, Velu PD, Pepin K, Abel H, Cottrell CE, Pfeifer JD, Kulkarni S, Govindan R, Konnick EQ, Lockwood CM, Duncavage EJ. Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer. Mod Pathol. 2018 May; 31: 791-808.

                


                  Steiner JE, Cottrell CE, Streicher JL, Jensen JN, King DM, Burrows PE, Siegel DH, Tollefson MM, Drolet BA, Püttgen KB. Scarring in Patients With PIK3CA-Related Overgrowth Syndromes. JAMA Dermatol. 2018 Apr 1; 154: 452-455.

                


                  Siegel DH, Cottrell CE, Streicher JL, Schilter KF, Basel DG, Baselga E, Burrows PE, Ciliberto HM, Vigh-Conrad KA, Eichenfield LF, Holland KE, Hogeling M, Jensen JN, Kelly ME, Kim W, King DM, McCuaig C, Mueller KA, Pope E, Powell J, Price H, Steiner JE, Frieden IJ, Tollefson MM, Drolet BA. Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics. J Invest Dermatol. 2018 Apr; 138: 957-967.

                


                  Schwetye KE, Gauvain K, Rodriguez D, Cottrell C, Limbrick DD Jr, Schmidt RE, Dahiya S. An 8-Year-Old Girl with A Supratentorial Mass. Brain Pathol. 2018 Jan; 28: 125-126.

                


                  Hucthagowder V, Shenoy A, Corliss M, Vigh-Conrad KA, Storer C, Grange DK, Cottrell CE. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum. Clin Genet. 2017 Jan; 91: 79-85.

View More Publications

View My Publications Publications

                  Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA. PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma. J Invest Dermatol. 2022 Dec 22;  

                


                  Li MM, Cottrell CE, Pullambhatla M, Roy S, Temple-Smolkin RL, Turner SA, Wang K, Zhou Y, Vnencak-Jones CL. Assessments of Somatic Variant Classification Using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists Guidelines: A Report from the Association for Molecular Pathology. J Mol Diagn. 2022 Dec 9;  

                


                  Davies OMT, Ng AT, Tran J, Blumenthal S, Arkin LM, Nopper AJ, Cottrell CE, Garzon M, Siegel DH, Frieden IJ, Drolet BA. Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11. Pediatr Dermatol. 2022 Nov; 39: 914-919.

                


                  Hou YC, Evenson MJ, Corliss MM, Mahapatra L, Aldawood A, Carpentieri DF, Chamlin SL, Kulungowski AM, Madan-Khetarpal S, Sebastian J, Pet MA, Coughlin CC, Willing MC, Pearson GD, Setty BA, El-Haffaf Z, Cottrell CE, Parikh BA, Krysiak K, Schroeder MC, Heusel JW, Neidich JA, Cao Y. A Comparative Analysis of RAS Variants in Patients with Disorders of Somatic Mosaicism. Genet Med. 2022 Nov 29;  

                


                  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;  

                


                  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;  

                


                  Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, Hashimoto S, Humphrey M, Matthews T, Hunter JM, Reshmi S, Schultz M, Lee K, Pfau R, Cottrell C, McBride KL, Navin NE, Chaudhari BP, Leung ML. A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties. J Mol Diagn. 2022 Jun 16;  

                


                  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;  

                


                  Matarneh B, Cottrell CE, Choi S, Pearson G, Fung B, Koo SC, Lillis AP, Ho ML, Fernandez Faith E. KRIT1-positive hyperkeratotic cutaneous capillary venous malformation. Pediatr Dermatol. 2022 Mar; 39: 250-254.

                


                  Hunter JM, Massingham LJ, Manickam K, Bartholomew D, Williamson RK, Schwab JL, Marhabaie M, Siemon A, de Los Reyes E, Reshmi SC, Cottrell CE, Wilson RK, Koboldt DC. Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder. Cold Spring Harb Mol Case Stud. 2022 Feb; 8: 

                


                  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;  

                


                  Halsey JN, Faith EF, Logan SJ, Shenoy A, Schieffer KM, Cottrell CE, Lillis AP, Aldrink JH, Setty BA, Pearson GD. Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature. Case Rep Dermatol Med. 2022; 2022: 8076649.

                


                  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.

                


                  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.

                


                  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: 

                


                  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.

                


                  Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA. Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth. Genet Med. 2021 Oct; 23: 1882-1888.

                


                  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.

                


                  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.

                


                  Davies OMT, Garzon MC, Frieden IJ, Cottrell CE, Gripp KW, Saneto RP, Shwayder T, Mirzaa GM, Drolet BA. Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies. J Am Acad Dermatol. 2021 Jul 6;  

                


                  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: 

                


                  Schieffer KM, Agarwal V, LaHaye S, Miller KE, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly BJ, Crist E, Rusin J, Finlay JL, Osorio DS, Sribnick EA, Leonard JR, Feldman A, Orr BA, Serrano J, Vasudevaraja V, Snuderl M, White P, Magrini V, Wilson RK, Mardis ER, Boué DR, Cottrell CE. YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas. Am J Surg Pathol. 2021 Mar 1; 45: 329-340.

                


                  Barrie ES, Cottrell CE, Gastier-Foster J, Hickey SE, Patel AD, Santoro SL, Alfaro MP. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. Eur J Med Genet. 2019 Aug 12;  103735.

                


                  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.

                


                  McNulty SN, Cottrell CE, Vigh-Conrad KA, Carter JH, Heusel JW, Ansstas G, Dahiya S. Beyond sequence variation: assessment of copy number variation in adult glioblastoma through targeted tumor somatic profiling. Hum Pathol. 2018 Dec 27;  

                


                  Balla A, Hampel KJ, Sharma MK, Cottrell CE, Sidiropoulos N. Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience. J Mol Diagn. 2018 Jul 6;  

                


                  Rosenbaum JN, Bloom R, Forys JT, Hiken J, Armstrong JR, Branson J, McNulty S, Velu PD, Pepin K, Abel H, Cottrell CE, Pfeifer JD, Kulkarni S, Govindan R, Konnick EQ, Lockwood CM, Duncavage EJ. Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer. Mod Pathol. 2018 May; 31: 791-808.

                


                  Steiner JE, Cottrell CE, Streicher JL, Jensen JN, King DM, Burrows PE, Siegel DH, Tollefson MM, Drolet BA, Püttgen KB. Scarring in Patients With PIK3CA-Related Overgrowth Syndromes. JAMA Dermatol. 2018 Apr 1; 154: 452-455.

                


                  Siegel DH, Cottrell CE, Streicher JL, Schilter KF, Basel DG, Baselga E, Burrows PE, Ciliberto HM, Vigh-Conrad KA, Eichenfield LF, Holland KE, Hogeling M, Jensen JN, Kelly ME, Kim W, King DM, McCuaig C, Mueller KA, Pope E, Powell J, Price H, Steiner JE, Frieden IJ, Tollefson MM, Drolet BA. Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics. J Invest Dermatol. 2018 Apr; 138: 957-967.

                


                  Schwetye KE, Gauvain K, Rodriguez D, Cottrell C, Limbrick DD Jr, Schmidt RE, Dahiya S. An 8-Year-Old Girl with A Supratentorial Mass. Brain Pathol. 2018 Jan; 28: 125-126.

                


                  Hucthagowder V, Shenoy A, Corliss M, Vigh-Conrad KA, Storer C, Grange DK, Cottrell CE. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum. Clin Genet. 2017 Jan; 91: 79-85.

View More Publications

View My Publications

                  Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA. PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma. J Invest Dermatol. 2022 Dec 22;  

                


                  Li MM, Cottrell CE, Pullambhatla M, Roy S, Temple-Smolkin RL, Turner SA, Wang K, Zhou Y, Vnencak-Jones CL. Assessments of Somatic Variant Classification Using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists Guidelines: A Report from the Association for Molecular Pathology. J Mol Diagn. 2022 Dec 9;  

                


                  Davies OMT, Ng AT, Tran J, Blumenthal S, Arkin LM, Nopper AJ, Cottrell CE, Garzon M, Siegel DH, Frieden IJ, Drolet BA. Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11. Pediatr Dermatol. 2022 Nov; 39: 914-919.

                


                  Hou YC, Evenson MJ, Corliss MM, Mahapatra L, Aldawood A, Carpentieri DF, Chamlin SL, Kulungowski AM, Madan-Khetarpal S, Sebastian J, Pet MA, Coughlin CC, Willing MC, Pearson GD, Setty BA, El-Haffaf Z, Cottrell CE, Parikh BA, Krysiak K, Schroeder MC, Heusel JW, Neidich JA, Cao Y. A Comparative Analysis of RAS Variants in Patients with Disorders of Somatic Mosaicism. Genet Med. 2022 Nov 29;  

                


                  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;  

                


                  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;  

                


                  Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, Hashimoto S, Humphrey M, Matthews T, Hunter JM, Reshmi S, Schultz M, Lee K, Pfau R, Cottrell C, McBride KL, Navin NE, Chaudhari BP, Leung ML. A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties. J Mol Diagn. 2022 Jun 16;  

                


                  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;  

                


                  Matarneh B, Cottrell CE, Choi S, Pearson G, Fung B, Koo SC, Lillis AP, Ho ML, Fernandez Faith E. KRIT1-positive hyperkeratotic cutaneous capillary venous malformation. Pediatr Dermatol. 2022 Mar; 39: 250-254.

                


                  Hunter JM, Massingham LJ, Manickam K, Bartholomew D, Williamson RK, Schwab JL, Marhabaie M, Siemon A, de Los Reyes E, Reshmi SC, Cottrell CE, Wilson RK, Koboldt DC. Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder. Cold Spring Harb Mol Case Stud. 2022 Feb; 8: 

                


                  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;  

                


                  Halsey JN, Faith EF, Logan SJ, Shenoy A, Schieffer KM, Cottrell CE, Lillis AP, Aldrink JH, Setty BA, Pearson GD. Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature. Case Rep Dermatol Med. 2022; 2022: 8076649.

                


                  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.

                


                  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.

                


                  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: 

                


                  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.

                


                  Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA. Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth. Genet Med. 2021 Oct; 23: 1882-1888.

                


                  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.

                


                  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.

                


                  Davies OMT, Garzon MC, Frieden IJ, Cottrell CE, Gripp KW, Saneto RP, Shwayder T, Mirzaa GM, Drolet BA. Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies. J Am Acad Dermatol. 2021 Jul 6;  

                


                  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: 

                


                  Schieffer KM, Agarwal V, LaHaye S, Miller KE, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly BJ, Crist E, Rusin J, Finlay JL, Osorio DS, Sribnick EA, Leonard JR, Feldman A, Orr BA, Serrano J, Vasudevaraja V, Snuderl M, White P, Magrini V, Wilson RK, Mardis ER, Boué DR, Cottrell CE. YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas. Am J Surg Pathol. 2021 Mar 1; 45: 329-340.

                


                  Barrie ES, Cottrell CE, Gastier-Foster J, Hickey SE, Patel AD, Santoro SL, Alfaro MP. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. Eur J Med Genet. 2019 Aug 12;  103735.

                


                  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.

                


                  McNulty SN, Cottrell CE, Vigh-Conrad KA, Carter JH, Heusel JW, Ansstas G, Dahiya S. Beyond sequence variation: assessment of copy number variation in adult glioblastoma through targeted tumor somatic profiling. Hum Pathol. 2018 Dec 27;  

                


                  Balla A, Hampel KJ, Sharma MK, Cottrell CE, Sidiropoulos N. Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience. J Mol Diagn. 2018 Jul 6;  

                


                  Rosenbaum JN, Bloom R, Forys JT, Hiken J, Armstrong JR, Branson J, McNulty S, Velu PD, Pepin K, Abel H, Cottrell CE, Pfeifer JD, Kulkarni S, Govindan R, Konnick EQ, Lockwood CM, Duncavage EJ. Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer. Mod Pathol. 2018 May; 31: 791-808.

                


                  Steiner JE, Cottrell CE, Streicher JL, Jensen JN, King DM, Burrows PE, Siegel DH, Tollefson MM, Drolet BA, Püttgen KB. Scarring in Patients With PIK3CA-Related Overgrowth Syndromes. JAMA Dermatol. 2018 Apr 1; 154: 452-455.

                


                  Siegel DH, Cottrell CE, Streicher JL, Schilter KF, Basel DG, Baselga E, Burrows PE, Ciliberto HM, Vigh-Conrad KA, Eichenfield LF, Holland KE, Hogeling M, Jensen JN, Kelly ME, Kim W, King DM, McCuaig C, Mueller KA, Pope E, Powell J, Price H, Steiner JE, Frieden IJ, Tollefson MM, Drolet BA. Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics. J Invest Dermatol. 2018 Apr; 138: 957-967.

                


                  Schwetye KE, Gauvain K, Rodriguez D, Cottrell C, Limbrick DD Jr, Schmidt RE, Dahiya S. An 8-Year-Old Girl with A Supratentorial Mass. Brain Pathol. 2018 Jan; 28: 125-126.

                


                  Hucthagowder V, Shenoy A, Corliss M, Vigh-Conrad KA, Storer C, Grange DK, Cottrell CE. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum. Clin Genet. 2017 Jan; 91: 79-85.

View More Publications

• Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA. PTPN11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma. J Invest Dermatol. 2022 Dec 22;
• Li MM, Cottrell CE, Pullambhatla M, Roy S, Temple-Smolkin RL, Turner SA, Wang K, Zhou Y, Vnencak-Jones CL. Assessments of Somatic Variant Classification Using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists Guidelines: A Report from the Association for Molecular Pathology. J Mol Diagn. 2022 Dec 9;
• Davies OMT, Ng AT, Tran J, Blumenthal S, Arkin LM, Nopper AJ, Cottrell CE, Garzon M, Siegel DH, Frieden IJ, Drolet BA. Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11. Pediatr Dermatol. 2022 Nov; 39: 914-919.
• Hou YC, Evenson MJ, Corliss MM, Mahapatra L, Aldawood A, Carpentieri DF, Chamlin SL, Kulungowski AM, Madan-Khetarpal S, Sebastian J, Pet MA, Coughlin CC, Willing MC, Pearson GD, Setty BA, El-Haffaf Z, Cottrell CE, Parikh BA, Krysiak K, Schroeder MC, Heusel JW, Neidich JA, Cao Y. A Comparative Analysis of RAS Variants in Patients with Disorders of Somatic Mosaicism. Genet Med. 2022 Nov 29;
• 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;
• 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;
• Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, Hashimoto S, Humphrey M, Matthews T, Hunter JM, Reshmi S, Schultz M, Lee K, Pfau R, Cottrell C, McBride KL, Navin NE, Chaudhari BP, Leung ML. A Decade’s Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties. J Mol Diagn. 2022 Jun 16;
• 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;
• Matarneh B, Cottrell CE, Choi S, Pearson G, Fung B, Koo SC, Lillis AP, Ho ML, Fernandez Faith E. KRIT1-positive hyperkeratotic cutaneous capillary venous malformation. Pediatr Dermatol. 2022 Mar; 39: 250-254.
• Hunter JM, Massingham LJ, Manickam K, Bartholomew D, Williamson RK, Schwab JL, Marhabaie M, Siemon A, de Los Reyes E, Reshmi SC, Cottrell CE, Wilson RK, Koboldt DC. Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder. Cold Spring Harb Mol Case Stud. 2022 Feb; 8:
• 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;
• Halsey JN, Faith EF, Logan SJ, Shenoy A, Schieffer KM, Cottrell CE, Lillis AP, Aldrink JH, Setty BA, Pearson GD. Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature. Case Rep Dermatol Med. 2022; 2022: 8076649.
• 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.
• 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.
• 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:
• 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.
• Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA. Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth. Genet Med. 2021 Oct; 23: 1882-1888.
• 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.
• 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.
• Davies OMT, Garzon MC, Frieden IJ, Cottrell CE, Gripp KW, Saneto RP, Shwayder T, Mirzaa GM, Drolet BA. Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies. J Am Acad Dermatol. 2021 Jul 6;
• 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:
• Schieffer KM, Agarwal V, LaHaye S, Miller KE, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly BJ, Crist E, Rusin J, Finlay JL, Osorio DS, Sribnick EA, Leonard JR, Feldman A, Orr BA, Serrano J, Vasudevaraja V, Snuderl M, White P, Magrini V, Wilson RK, Mardis ER, Boué DR, Cottrell CE. YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas. Am J Surg Pathol. 2021 Mar 1; 45: 329-340.
• Barrie ES, Cottrell CE, Gastier-Foster J, Hickey SE, Patel AD, Santoro SL, Alfaro MP. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. Eur J Med Genet. 2019 Aug 12; 103735.
• 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.
• McNulty SN, Cottrell CE, Vigh-Conrad KA, Carter JH, Heusel JW, Ansstas G, Dahiya S. Beyond sequence variation: assessment of copy number variation in adult glioblastoma through targeted tumor somatic profiling. Hum Pathol. 2018 Dec 27;
• Balla A, Hampel KJ, Sharma MK, Cottrell CE, Sidiropoulos N. Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience. J Mol Diagn. 2018 Jul 6;
• Rosenbaum JN, Bloom R, Forys JT, Hiken J, Armstrong JR, Branson J, McNulty S, Velu PD, Pepin K, Abel H, Cottrell CE, Pfeifer JD, Kulkarni S, Govindan R, Konnick EQ, Lockwood CM, Duncavage EJ. Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer. Mod Pathol. 2018 May; 31: 791-808.
• Steiner JE, Cottrell CE, Streicher JL, Jensen JN, King DM, Burrows PE, Siegel DH, Tollefson MM, Drolet BA, Püttgen KB. Scarring in Patients With PIK3CA-Related Overgrowth Syndromes. JAMA Dermatol. 2018 Apr 1; 154: 452-455.
• Siegel DH, Cottrell CE, Streicher JL, Schilter KF, Basel DG, Baselga E, Burrows PE, Ciliberto HM, Vigh-Conrad KA, Eichenfield LF, Holland KE, Hogeling M, Jensen JN, Kelly ME, Kim W, King DM, McCuaig C, Mueller KA, Pope E, Powell J, Price H, Steiner JE, Frieden IJ, Tollefson MM, Drolet BA. Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics. J Invest Dermatol. 2018 Apr; 138: 957-967.
• Schwetye KE, Gauvain K, Rodriguez D, Cottrell C, Limbrick DD Jr, Schmidt RE, Dahiya S. An 8-Year-Old Girl with A Supratentorial Mass. Brain Pathol. 2018 Jan; 28: 125-126.
• Hucthagowder V, Shenoy A, Corliss M, Vigh-Conrad KA, Storer C, Grange DK, Cottrell CE. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum. Clin Genet. 2017 Jan; 91: 79-85.

Education

Date of Appointment at Nationwide Children’s Hospital: 11/14/2016

Fellowship

Nationwide Children’s Hospital

Date Completed: 12/10/2010

Graduate School

The Ohio State University

Date Completed: 12/09/2007

Undergraduate School

The Ohio State University

Date Completed: 06/08/2001

Education

Date of Appointment at Nationwide Children’s Hospital: 11/14/2016

Fellowship

Nationwide Children’s Hospital

Date Completed: 12/10/2010

Graduate School

The Ohio State University

Date Completed: 12/09/2007

Undergraduate School

The Ohio State University

Date Completed: 06/08/2001

Education

Date of Appointment at Nationwide Children’s Hospital: 11/14/2016

Fellowship

Nationwide Children’s Hospital

Date Completed: 12/10/2010

Graduate School

The Ohio State University

Date Completed: 12/09/2007

Undergraduate School

The Ohio State University

Date Completed: 06/08/2001

Date of Appointment at Nationwide Children’s Hospital: 11/14/2016

Fellowship

Nationwide Children’s Hospital

Date Completed: 12/10/2010

Graduate School

The Ohio State University

Date Completed: 12/09/2007

Undergraduate School

The Ohio State University

Date Completed: 06/08/2001

Date of Appointment at Nationwide Children’s Hospital: 11/14/2016

Fellowship

Nationwide Children’s Hospital

Date Completed: 12/10/2010

Graduate School

The Ohio State University

Date Completed: 12/09/2007

Undergraduate School

The Ohio State University

Date Completed: 06/08/2001

Professional Experience

2016 - Present Nationwide Children’s Hospital, Director, Clinical Laboratory, Institute for Genomic Medicine2011 - 2016 Washington University School of Medicine, Assistant Professor of Pathology and Immunology; Assistant Professor of Genetics; Director, Cytogenetics and Molecular Pathology; Medical Director of Genomics and Pathology Services

Professional Experience

2016 - Present Nationwide Children’s Hospital, Director, Clinical Laboratory, Institute for Genomic Medicine2011 - 2016 Washington University School of Medicine, Assistant Professor of Pathology and Immunology; Assistant Professor of Genetics; Director, Cytogenetics and Molecular Pathology; Medical Director of Genomics and Pathology Services

Professional Experience

2016 - Present Nationwide Children’s Hospital, Director, Clinical Laboratory, Institute for Genomic Medicine2011 - 2016 Washington University School of Medicine, Assistant Professor of Pathology and Immunology; Assistant Professor of Genetics; Director, Cytogenetics and Molecular Pathology; Medical Director of Genomics and Pathology Services

2016 - Present Nationwide Children’s Hospital, Director, Clinical Laboratory, Institute for Genomic Medicine2011 - 2016 Washington University School of Medicine, Assistant Professor of Pathology and Immunology; Assistant Professor of Genetics; Director, Cytogenetics and Molecular Pathology; Medical Director of Genomics and Pathology Services

2016 - Present Nationwide Children’s Hospital, Director, Clinical Laboratory, Institute for Genomic Medicine

Contact Information

Institute for Genomic Medicine

Call us at: (614)722-2866

                    700 Children's DriveColumbus, OH 43205 (map)

Contact Information

Institute for Genomic Medicine

Call us at: (614)722-2866

                    700 Children's DriveColumbus, OH 43205 (map)

Contact Information

Institute for Genomic Medicine

Call us at: (614)722-2866

                    700 Children's DriveColumbus, OH 43205 (map)

Institute for Genomic Medicine

Call us at: (614)722-2866

                    700 Children's DriveColumbus, OH 43205 (map)

Call us at: (614)722-2866

                    700 Children's DriveColumbus, OH 43205 (map)

Call us at: (614)722-2866

                    700 Children's DriveColumbus, OH 43205 (map)

• Call us at:
• (614)722-2866
• 700 Children’s DriveColumbus, OH 43205 (map)