Contact Information

Call us at: (614) 355-2894

Fax us at: (614) 355-6833

Email Kathleen M. Schieffer, PhD, FACMG

Institute for Genomic Medicine575 Children’s CrossroadRB3-WB2223Columbus, OH 43215 (map)

Learn more about Kathleen M. Schieffer

Biography

Kathleen M. Schieffer, PhD, FACMG, is a clinical laboratory director within the Institute for Genomic Medicine at Nationwide Children’s Hospital and an Assistant Professor – Clinical within the Department of Pathology at the Ohio State University College of Medicine. She received a dual-title PhD in Biomedical Sciences and Clinical and Translational Science at the Pennsylvania State University College of Medicine, where she studied the transcriptome and microbiome of colonic tissue from individuals with diverticulitis. Her postdoctoral work with the Institute for Genomic Medicine at Nationwide Children’s Hospital focused on genomic and transcriptomic analysis in patients with rare and refractory hematologic disease, cancer, and somatic disease enrolled on our institutional translational cancer genomics protocol. She completed a Laboratory Genetics and Genomics fellowship at Nationwide Children’s Hospital in 2021. Her current interests focus on the use of cytogenetic and molecular assays to better characterize germline and somatic disease.

Research

Publications

                  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;  

                


                  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;  

                


                  Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.

                


                  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.

                


                  Marhabaie M, Hickey SE, Miller K, Grischow O, Schieffer KM, Franklin SJ, Gordon DM, Choi S, Mihalic Mosher T, White P, Koboldt DC, Wilson RK. Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome. Cold Spring Harb Mol Case Stud. 2021 Dec; 7: 

                


                  Kline BP, Yochum GS, Brinton DL, Schieffer KM, Weaver T, Harris L, Deiling S, Berg AS, Koltun WA. COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon. J Surg Res. 2021 Nov; 267: 397-403.

                


                  Schieffer KM, Emrich SM, Yochum GS, Koltun WA. CD163L1+CXCL10+ Macrophages are Enriched Within Colonic Lamina Propria of Diverticulitis Patients. J Surg Res. 2021 Nov; 267: 527-535.

                


                  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.

                


                  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.

                


                  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.

View More Publications

Education

Fellowship

Nationwide Children’s Hospital

Date Completed: 07/21/2021

Graduate School

The Pennsylvania State University

Date Completed: 12/16/2017

Undergraduate School

University of Delaware

Date Completed: 05/29/2010

Clinical Interests

Cytogenetics and Molecular Genetics

Contact Information

Institute for Genomic Medicine

Call us at: (614) 355-2894

Fax us at: (614) 355-6833

Email Kathleen M Schieffer

                    575 Children’s CrossroadRB3-WB2223Columbus, OH 43215 (map)

Connect with Kathleen M. Schieffer

Connect on LinkedIn

Connect on ResearchGate

Contact Information

Call us at: (614) 355-2894

Fax us at: (614) 355-6833

Email Kathleen M. Schieffer, PhD, FACMG

Institute for Genomic Medicine575 Children’s CrossroadRB3-WB2223Columbus, OH 43215 (map)

Learn more about Kathleen M. Schieffer

Biography

Kathleen M. Schieffer, PhD, FACMG, is a clinical laboratory director within the Institute for Genomic Medicine at Nationwide Children’s Hospital and an Assistant Professor – Clinical within the Department of Pathology at the Ohio State University College of Medicine. She received a dual-title PhD in Biomedical Sciences and Clinical and Translational Science at the Pennsylvania State University College of Medicine, where she studied the transcriptome and microbiome of colonic tissue from individuals with diverticulitis. Her postdoctoral work with the Institute for Genomic Medicine at Nationwide Children’s Hospital focused on genomic and transcriptomic analysis in patients with rare and refractory hematologic disease, cancer, and somatic disease enrolled on our institutional translational cancer genomics protocol. She completed a Laboratory Genetics and Genomics fellowship at Nationwide Children’s Hospital in 2021. Her current interests focus on the use of cytogenetic and molecular assays to better characterize germline and somatic disease.

Research

Publications

                  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;  

                


                  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;  

                


                  Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.

                


                  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.

                


                  Marhabaie M, Hickey SE, Miller K, Grischow O, Schieffer KM, Franklin SJ, Gordon DM, Choi S, Mihalic Mosher T, White P, Koboldt DC, Wilson RK. Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome. Cold Spring Harb Mol Case Stud. 2021 Dec; 7: 

                


                  Kline BP, Yochum GS, Brinton DL, Schieffer KM, Weaver T, Harris L, Deiling S, Berg AS, Koltun WA. COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon. J Surg Res. 2021 Nov; 267: 397-403.

                


                  Schieffer KM, Emrich SM, Yochum GS, Koltun WA. CD163L1+CXCL10+ Macrophages are Enriched Within Colonic Lamina Propria of Diverticulitis Patients. J Surg Res. 2021 Nov; 267: 527-535.

                


                  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.

                


                  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.

                


                  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.

View More Publications

Education

Fellowship

Nationwide Children’s Hospital

Date Completed: 07/21/2021

Graduate School

The Pennsylvania State University

Date Completed: 12/16/2017

Undergraduate School

University of Delaware

Date Completed: 05/29/2010

Clinical Interests

Cytogenetics and Molecular Genetics

Contact Information

Institute for Genomic Medicine

Call us at: (614) 355-2894

Fax us at: (614) 355-6833

Email Kathleen M Schieffer

                    575 Children’s CrossroadRB3-WB2223Columbus, OH 43215 (map)

Connect with Kathleen M. Schieffer

Connect on LinkedIn

Connect on ResearchGate

Contact Information

Call us at: (614) 355-2894

Fax us at: (614) 355-6833

Email Kathleen M. Schieffer, PhD, FACMG

Institute for Genomic Medicine575 Children’s CrossroadRB3-WB2223Columbus, OH 43215 (map)

Learn more about Kathleen M. Schieffer

Contact Information

  • Call us at:
  • (614) 355-2894
  • Fax us at:
  • (614) 355-6833
  • Email Kathleen M. Schieffer, PhD, FACMG
  • Institute for Genomic Medicine575 Children’s CrossroadRB3-WB2223Columbus, OH 43215 (map)

Learn more about Kathleen M. Schieffer

Biography

Kathleen M. Schieffer, PhD, FACMG, is a clinical laboratory director within the Institute for Genomic Medicine at Nationwide Children’s Hospital and an Assistant Professor – Clinical within the Department of Pathology at the Ohio State University College of Medicine. She received a dual-title PhD in Biomedical Sciences and Clinical and Translational Science at the Pennsylvania State University College of Medicine, where she studied the transcriptome and microbiome of colonic tissue from individuals with diverticulitis. Her postdoctoral work with the Institute for Genomic Medicine at Nationwide Children’s Hospital focused on genomic and transcriptomic analysis in patients with rare and refractory hematologic disease, cancer, and somatic disease enrolled on our institutional translational cancer genomics protocol. She completed a Laboratory Genetics and Genomics fellowship at Nationwide Children’s Hospital in 2021. Her current interests focus on the use of cytogenetic and molecular assays to better characterize germline and somatic disease.

Biography

Kathleen M. Schieffer, PhD, FACMG, is a clinical laboratory director within the Institute for Genomic Medicine at Nationwide Children’s Hospital and an Assistant Professor – Clinical within the Department of Pathology at the Ohio State University College of Medicine. She received a dual-title PhD in Biomedical Sciences and Clinical and Translational Science at the Pennsylvania State University College of Medicine, where she studied the transcriptome and microbiome of colonic tissue from individuals with diverticulitis. Her postdoctoral work with the Institute for Genomic Medicine at Nationwide Children’s Hospital focused on genomic and transcriptomic analysis in patients with rare and refractory hematologic disease, cancer, and somatic disease enrolled on our institutional translational cancer genomics protocol. She completed a Laboratory Genetics and Genomics fellowship at Nationwide Children’s Hospital in 2021. Her current interests focus on the use of cytogenetic and molecular assays to better characterize germline and somatic disease.

Biography

Kathleen M. Schieffer, PhD, FACMG, is a clinical laboratory director within the Institute for Genomic Medicine at Nationwide Children’s Hospital and an Assistant Professor – Clinical within the Department of Pathology at the Ohio State University College of Medicine. She received a dual-title PhD in Biomedical Sciences and Clinical and Translational Science at the Pennsylvania State University College of Medicine, where she studied the transcriptome and microbiome of colonic tissue from individuals with diverticulitis. Her postdoctoral work with the Institute for Genomic Medicine at Nationwide Children’s Hospital focused on genomic and transcriptomic analysis in patients with rare and refractory hematologic disease, cancer, and somatic disease enrolled on our institutional translational cancer genomics protocol. She completed a Laboratory Genetics and Genomics fellowship at Nationwide Children’s Hospital in 2021. Her current interests focus on the use of cytogenetic and molecular assays to better characterize germline and somatic disease.

Kathleen M. Schieffer, PhD, FACMG, is a clinical laboratory director within the Institute for Genomic Medicine at Nationwide Children’s Hospital and an Assistant Professor – Clinical within the Department of Pathology at the Ohio State University College of Medicine. She received a dual-title PhD in Biomedical Sciences and Clinical and Translational Science at the Pennsylvania State University College of Medicine, where she studied the transcriptome and microbiome of colonic tissue from individuals with diverticulitis. Her postdoctoral work with the Institute for Genomic Medicine at Nationwide Children’s Hospital focused on genomic and transcriptomic analysis in patients with rare and refractory hematologic disease, cancer, and somatic disease enrolled on our institutional translational cancer genomics protocol. She completed a Laboratory Genetics and Genomics fellowship at Nationwide Children’s Hospital in 2021. Her current interests focus on the use of cytogenetic and molecular assays to better characterize germline and somatic disease.

Kathleen M. Schieffer, PhD, FACMG, is a clinical laboratory director within the Institute for Genomic Medicine at Nationwide Children’s Hospital and an Assistant Professor – Clinical within the Department of Pathology at the Ohio State University College of Medicine. She received a dual-title PhD in Biomedical Sciences and Clinical and Translational Science at the Pennsylvania State University College of Medicine, where she studied the transcriptome and microbiome of colonic tissue from individuals with diverticulitis. Her postdoctoral work with the Institute for Genomic Medicine at Nationwide Children’s Hospital focused on genomic and transcriptomic analysis in patients with rare and refractory hematologic disease, cancer, and somatic disease enrolled on our institutional translational cancer genomics protocol. She completed a Laboratory Genetics and Genomics fellowship at Nationwide Children’s Hospital in 2021. Her current interests focus on the use of cytogenetic and molecular assays to better characterize germline and somatic disease.

Research

Publications

                  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;  

                


                  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;  

                


                  Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.

                


                  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.

                


                  Marhabaie M, Hickey SE, Miller K, Grischow O, Schieffer KM, Franklin SJ, Gordon DM, Choi S, Mihalic Mosher T, White P, Koboldt DC, Wilson RK. Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome. Cold Spring Harb Mol Case Stud. 2021 Dec; 7: 

                


                  Kline BP, Yochum GS, Brinton DL, Schieffer KM, Weaver T, Harris L, Deiling S, Berg AS, Koltun WA. COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon. J Surg Res. 2021 Nov; 267: 397-403.

                


                  Schieffer KM, Emrich SM, Yochum GS, Koltun WA. CD163L1+CXCL10+ Macrophages are Enriched Within Colonic Lamina Propria of Diverticulitis Patients. J Surg Res. 2021 Nov; 267: 527-535.

                


                  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.

                


                  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.

                


                  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.

View More Publications

Research

Publications

                  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;  

                


                  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;  

                


                  Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.

                


                  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.

                


                  Marhabaie M, Hickey SE, Miller K, Grischow O, Schieffer KM, Franklin SJ, Gordon DM, Choi S, Mihalic Mosher T, White P, Koboldt DC, Wilson RK. Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome. Cold Spring Harb Mol Case Stud. 2021 Dec; 7: 

                


                  Kline BP, Yochum GS, Brinton DL, Schieffer KM, Weaver T, Harris L, Deiling S, Berg AS, Koltun WA. COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon. J Surg Res. 2021 Nov; 267: 397-403.

                


                  Schieffer KM, Emrich SM, Yochum GS, Koltun WA. CD163L1+CXCL10+ Macrophages are Enriched Within Colonic Lamina Propria of Diverticulitis Patients. J Surg Res. 2021 Nov; 267: 527-535.

                


                  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.

                


                  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.

                


                  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.

View More Publications

Research

Publications

                  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;  

                


                  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;  

                


                  Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.

                


                  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.

                


                  Marhabaie M, Hickey SE, Miller K, Grischow O, Schieffer KM, Franklin SJ, Gordon DM, Choi S, Mihalic Mosher T, White P, Koboldt DC, Wilson RK. Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome. Cold Spring Harb Mol Case Stud. 2021 Dec; 7: 

                


                  Kline BP, Yochum GS, Brinton DL, Schieffer KM, Weaver T, Harris L, Deiling S, Berg AS, Koltun WA. COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon. J Surg Res. 2021 Nov; 267: 397-403.

                


                  Schieffer KM, Emrich SM, Yochum GS, Koltun WA. CD163L1+CXCL10+ Macrophages are Enriched Within Colonic Lamina Propria of Diverticulitis Patients. J Surg Res. 2021 Nov; 267: 527-535.

                


                  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.

                


                  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.

                


                  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.

View More Publications

Publications

                  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;  

                


                  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;  

                


                  Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.

                


                  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.

                


                  Marhabaie M, Hickey SE, Miller K, Grischow O, Schieffer KM, Franklin SJ, Gordon DM, Choi S, Mihalic Mosher T, White P, Koboldt DC, Wilson RK. Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome. Cold Spring Harb Mol Case Stud. 2021 Dec; 7: 

                


                  Kline BP, Yochum GS, Brinton DL, Schieffer KM, Weaver T, Harris L, Deiling S, Berg AS, Koltun WA. COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon. J Surg Res. 2021 Nov; 267: 397-403.

                


                  Schieffer KM, Emrich SM, Yochum GS, Koltun WA. CD163L1+CXCL10+ Macrophages are Enriched Within Colonic Lamina Propria of Diverticulitis Patients. J Surg Res. 2021 Nov; 267: 527-535.

                


                  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.

                


                  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.

                


                  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.

View More Publications

                  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;  

                


                  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;  

                


                  Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.

                


                  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.

                


                  Marhabaie M, Hickey SE, Miller K, Grischow O, Schieffer KM, Franklin SJ, Gordon DM, Choi S, Mihalic Mosher T, White P, Koboldt DC, Wilson RK. Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome. Cold Spring Harb Mol Case Stud. 2021 Dec; 7: 

                


                  Kline BP, Yochum GS, Brinton DL, Schieffer KM, Weaver T, Harris L, Deiling S, Berg AS, Koltun WA. COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon. J Surg Res. 2021 Nov; 267: 397-403.

                


                  Schieffer KM, Emrich SM, Yochum GS, Koltun WA. CD163L1+CXCL10+ Macrophages are Enriched Within Colonic Lamina Propria of Diverticulitis Patients. J Surg Res. 2021 Nov; 267: 527-535.

                


                  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.

                


                  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.

                


                  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.

View More Publications

  • 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;
  • 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;
  • Miller KE, Cassady KA, Roth JC, Clements J, Schieffer KM, Leraas K, Miller AR, Prasad N, Leavenworth JW, Aban IB, Whitley RJ, Gillespie GY, Mardis ER, Markert JM. Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clin Cancer Res. 2022 Feb 1; 28: 498-506.
  • 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.
  • Marhabaie M, Hickey SE, Miller K, Grischow O, Schieffer KM, Franklin SJ, Gordon DM, Choi S, Mihalic Mosher T, White P, Koboldt DC, Wilson RK. Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome. Cold Spring Harb Mol Case Stud. 2021 Dec; 7:
  • Kline BP, Yochum GS, Brinton DL, Schieffer KM, Weaver T, Harris L, Deiling S, Berg AS, Koltun WA. COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon. J Surg Res. 2021 Nov; 267: 397-403.
  • Schieffer KM, Emrich SM, Yochum GS, Koltun WA. CD163L1+CXCL10+ Macrophages are Enriched Within Colonic Lamina Propria of Diverticulitis Patients. J Surg Res. 2021 Nov; 267: 527-535.
  • 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.
  • 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.
  • 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.

Education

Fellowship

Nationwide Children’s Hospital

Date Completed: 07/21/2021

Graduate School

The Pennsylvania State University

Date Completed: 12/16/2017

Undergraduate School

University of Delaware

Date Completed: 05/29/2010

Education

Fellowship

Nationwide Children’s Hospital

Date Completed: 07/21/2021

Graduate School

The Pennsylvania State University

Date Completed: 12/16/2017

Undergraduate School

University of Delaware

Date Completed: 05/29/2010

Education

Fellowship

Nationwide Children’s Hospital

Date Completed: 07/21/2021

Graduate School

The Pennsylvania State University

Date Completed: 12/16/2017

Undergraduate School

University of Delaware

Date Completed: 05/29/2010

Fellowship

Nationwide Children’s Hospital

Date Completed: 07/21/2021

Graduate School

The Pennsylvania State University

Date Completed: 12/16/2017

Undergraduate School

University of Delaware

Date Completed: 05/29/2010

Fellowship

Nationwide Children’s Hospital

Date Completed: 07/21/2021

Graduate School

The Pennsylvania State University

Date Completed: 12/16/2017

Undergraduate School

University of Delaware

Date Completed: 05/29/2010

Clinical Interests

Cytogenetics and Molecular Genetics

Clinical Interests

Cytogenetics and Molecular Genetics

Clinical Interests

Cytogenetics and Molecular Genetics

Cytogenetics and Molecular Genetics

  • Cytogenetics and Molecular Genetics

Contact Information

Institute for Genomic Medicine

Call us at: (614) 355-2894

Fax us at: (614) 355-6833

Email Kathleen M Schieffer

                    575 Children’s CrossroadRB3-WB2223Columbus, OH 43215 (map)

Contact Information

Institute for Genomic Medicine

Call us at: (614) 355-2894

Fax us at: (614) 355-6833

Email Kathleen M Schieffer

                    575 Children’s CrossroadRB3-WB2223Columbus, OH 43215 (map)

Contact Information

Institute for Genomic Medicine

Call us at: (614) 355-2894

Fax us at: (614) 355-6833

Email Kathleen M Schieffer

                    575 Children’s CrossroadRB3-WB2223Columbus, OH 43215 (map)

Institute for Genomic Medicine

Call us at: (614) 355-2894

Fax us at: (614) 355-6833

Email Kathleen M Schieffer

                    575 Children’s CrossroadRB3-WB2223Columbus, OH 43215 (map)

Call us at: (614) 355-2894

Fax us at: (614) 355-6833

Email Kathleen M Schieffer

                    575 Children’s CrossroadRB3-WB2223Columbus, OH 43215 (map)

Call us at: (614) 355-2894

Fax us at: (614) 355-6833

Email Kathleen M Schieffer

                    575 Children’s CrossroadRB3-WB2223Columbus, OH 43215 (map)
  • Call us at:
  • (614) 355-2894
  • Fax us at:
  • (614) 355-6833
  • Email Kathleen M Schieffer
  • 575 Children’s CrossroadRB3-WB2223Columbus, OH 43215 (map)

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