Jacquelyn Roth, PhD, DABMGG
Associate Professor of Clinical Pathology and Laboratory Medicine
Perelman School of Medicine at the University of Pennsylvania
Associate Vice Chair for Quality and Patient Safety
Director of Quality and Compliance, Division of Precision and Computational Diagnostics
Contact InformationDepartment of Pathology and Laboratory Medicine
3020 Market Street
Suite 220
Philadelphia, PA 19104
Specialty Division
Precision and Computational Diagnostics
Education
BA (Major - Biology, Minor - Applied Mathematics), Franklin & Marshall College, 2004
PhD (Genetics), Thomas Jefferson University, 2011
Specialty Certification
American Board of Medical Genetics and Genomics, Clinical Cytogenetics, 2013
American Board of Medical Genetics and Genomics, Clinical Molecular Genetics, 2015
Postgraduate Training
ABMGG Fellowship, Clinical Cytogenetics, The Children's Hospital of Philadelphia, 2011-13
ABMGG Fellowship, Clinical Molecular Genetics, The Children's Hospital of Philadelphia, 2013-14
Awards and Honors
John Marshall Scholar, Franklin and Marshall College, 2000-04
Howard Hughes Scholar, Franklin and Marshall College, 2001-04
Alpha Epsilon Delta Premedical Honor Society, Franklin and Marshall College, 2003-04
Biology Departmental Honors, Franklin and Marshall College, 2004
M. Munson Award in Dance, Franklin and Marshall College, 2004
Marie D’Agostino Senior Biology Award, Franklin and Marshall College, 2004
NIH Training Grant, Thomas Jefferson University, 2006-09
Jefferson College of Graduate Studies Alumni Travel Fellowship, Thomas Jefferson University, 2008
The Fredric Rieders Renaissance Foundation Graduate Student Recognition Award, Thomas Jefferson University, 2011
Mouse Genetics Travel Scholarship, International Mammalian Genome Conference, 2011
Jefferson College of Graduate Studies Alumni Travel Fellowship, Thomas Jefferson University, 2011
Cis B. Golder Quality of Life Grant, Living Beyond Breast Cancer, 2011
Jefferson College of Graduate Studies Alumni Prize for Best Thesis, Thomas Jefferson University, 2012
Spirit of the Promise Award, Susan G. Komen Philadelphia, 2012
Student Travel Award, American Cytogenetics Conference, 2012
Going Beyond Award, Living Beyond Breast Cancer, 2012
Research Poster Day Prize, The Children’s Hospital of Philadelphia, 2014
Memberships and Professional Organizations
American Association for the Advancement of Science, 2007-09
The American Society for Cell Biology, 2008-09
Young Survival Coalition, Co-Chair, Philadelphia Young Survival Support Group, 2010-14
Susan G. Komen for the Cure Philadelphia, 2010-16
--- Susan G. Komen Race for the Cure Philadelphia, Co-Chair, 2014-15
--- The Big Pink Footprint Young Survivors Division, Co-Leader, 2014-15
Living Beyond Breast Cancer, Volunteer and 20th Anniversary blogger, 2010-19
National Post-Doctoral Association, 2011-14
American Cytogenetics Conference, 2012-present
Association for Molecular Pathology, 2014-present
College of American Pathologists, 2016-present
Thomas Jefferson University, Jefferson Genetics Counseling Master’s Program Advisory Board, 2016-present
National Cancer Institutes Funded Grant of Drs. Kate Nathanson and Steve Joffe, External Stakeholder Advisory Board, 2019-present
American College of Medical Genetics and Genomics, 2022-present
Genomics Organization for Academic Laboratories, 2022-present
Web Links
Susan G. Komen Philadelphia Promotional Video; "Philadelphia's Own Little Rocky"
Selected Publications
Inherited Basaloid Neoplasms Associated With SUFU Pathogenic Variants
James J Abbott, Angela J Jiang, Rama Godse, Sarah Ahmed, Stephen C Senft, Melissa A Wilson, Justine V Cohen, Tara C Mitchell, Temitayo A Ogunleye, H William Higgins, Thuzar M Shin, Christopher J Miller, Jacquelyn J Roth, Salvatore F Priore, Leslie Castelo-Soccio, Rosalie Elenitsas, John T Seykora, Katherine L Nathanson, Emily Y Chu, JAMA Dermatol., 2024, PMID:39292485
CTDSP2::GLI1 fusion in glioblastoma: A diagnostic challenge through tumor heterogeneity
Manita Kanathanavanich, Shunsuke Koga, Sara Lynn Stone, Jacquelyn Roth, Zied Abdullaev, Donald M O'Rourke, Stephen Bagley, Robert M Kurtz, Michelle Alonso-Basanta, Kenneth Aldape, MacLean P Nasrallah, Guang Yang, J Neuropathol Exp Neurol, 2024, PMID:38981111
FGFR alterations in pediatric, young adult, and adult brain tumors: A comparison of histologic, molecular, and clinical features
A Viaene, S Stone, J Roth, L Surrey, M Fisher, S Bagley, C Hawkins, M Santi, M Nasrallah, JNEN 83(6): 521, 2024
Brief Report: Impact of Reflex Testing on Tissue-Based Molecular Genotyping in Patients With Advanced Non-Squamous Non-Small Cell Lung Cancer
Melina E Marmarelis, Dylan G Scholes, Cindy M McGrath, Salvatore F Priore, Jacquelyn J Roth, Michael Feldman, Jennifer J D Morrissette, Leslie Litzky, Charu Deshpande, Jeffrey C Thompson, Abigail Doucette, Peter E Gabriel, Lova Sun, Aditi P Singh, Roger B Cohen, Corey J Langer, Erica L Carpenter, Charu Aggarwal, Clin Lung Cancer 25(3): 262-26, 2024
Establishing a Pathway for Utilization of Clinical Laboratory Resources for Research Studies and Clinical Trials
S. Herlihy, C. Gentile, D. Lieberman, J. Milano, S. Priore, J. Roth, J. Mol Diagn 25(11): S89, 2023
Technical Considerations and Challenges of Validating a Clinical Anchored Multiplex NGS-Based Assay for Known and Novel Fusion Detection in Cancer
A. Landi, M. Chaum, C. Rushton, C. Gentile, J. Roth, S. Herlihy, S. Priore, J. Mol Diagn 25(11): S153, 2023
Quality Control of a New Probe Lot for a Laboratory Developed Hybrid-Capture NGS Assay
C. Poveda-Rogers, A. Landi, A. Chitturi, S. Priore, J. Roth, S. Herlihy, J. Mol. Diagn 25(11): S152, 2023
Creation of an Automated VCF Positive Control Truth Set to Facilitate Quality Control Review
A. Chitturi, D. Lieberman, C. Poveda-Rogers, J. Roth, S. Herlihy, J. Morrissette, S. Priore, J. Mol Diagn 25(11): S87, 2023
Detection of Clinically Relevant Results in Specimens Failing to Pass Quality Control
F. El-Sharkawy, S. Priore, J. Roth, J. Mol Diagn 25(11): S144, 2023
AMP case report: Identification of multiple germline cancer predisposing gene variants in a single patient during tumor sequencing analysis
Narek Israelyan, Dylane Wineland, Salvatore F. Priore, and Jacquelyn J. Roth, CAP Today, 2023
