Jacquelyn Roth, PhD, DABMGG

Assistant Professor of Clinical Pathology and Laboratory Medicine
Perelman School of Medicine at the University of Pennsylvania

Contact Information3020 Market Street
Suite 220
Philadelphia, PA, 19104

Specialty Division

Precision and Computational Diagnostics


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, 2011-2013
ABMGG Fellowship, Clinical Molecular Genetics, The Children's Hospital of Philadelphia, 2013-2014

Awards and Honors

John Marshall Scholar, Franklin and Marshall College, 2000-2004
Howard Hughes Scholar, Franklin and Marshall College, 2001-2004
Alpha Epsilon Delta Premedical Honor Society, Franklin and Marshall College, 2003-2004
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, 2006-2009
Jefferson College of Graduate Studies Alumni Travel Fellowship, Thomas Jefferson University, 2008
Cis B. Golder Quality of Life Grant, Living Beyond Breast Cancer, 2011
Mouse Genetics Travel Scholarship, International Mammalian Genome Conference, 2011
Jefferson College of Graduate Studies Alumni Travel Fellowship, Thomas Jefferson University, 2011
The Fredric Rieders Renaissance Foundation Graduate Student Recognition Award, Thomas Jefferson University, 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 - 2009
The American Society for Cell Biology, 2008 - 2009
Susan G. Komen for the Cure Philadelphia, 2010 - 2016
Living Beyond Breast Cancer, 2010 - 2019
Young Survival Coalition, 2010 - 2014
National Post-Doctoral Association, 2011 - 2014
American Cytogenetics Conference, 2012 - Present
Association for Molecular Pathology, 2014 - Present
College of American Pathologists, 2016 - Present
Jefferson Genetics Counseling Master’s Program Advisory Board, Thomas Jefferson University, 2016 - Present
National Cancer Institutes Funded Grant of Drs. Kate Nathanson and Steve Joffe, 2019 - Present
American College of Medical Genetics and Genomics, 2022 - Present
Genomics Organization for Academic Laboratories, 2022 - Present

Web Links

Selected Publications

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

Homologous recombination pathway gene variants identified by tumor-only sequencing assays in lung carcinoma patients

Yoon JY, Roth JJ, Rushton CA, Morrissette JJD, Nathanson KL, Cohen RB, Rosenbaum JN., Transl Lung Cancer Res. 12(6): 1236-1244, 2023, PMID:37425424

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Leukemias, Lymphomas, and Plasma Cell Disorders

Jennifer J.D. Morrissette, Jacquelyn J. Roth, Selina M. Luger and Edward A. Stadtmauer, Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, 2023

A Recurrent ERBB2 Rearrangement in Invasive Mucinous Adenocarcinoma of the Lung

F. El-Sharkawy, J. Roth, S. Priore, J Mol Diagn 24(10): S119, 2022

Utilizing Data from Fusion Transcript Analysis by Massively Parallel Sequencing beyond Validated Gene Fusion Reporting

A. Good, S. Priore, J. Roth, G. Yang, J Mol Diagn 24(10): S144, 2022

Gene-Specific Validation of Copy Number Gains from a Massively Parallel Sequencing Assay

J. Corines, A. Bigdeli, S. Herlihy, S. Priore, J. Roth, J Mol Diagn 24(10): S130, 2022

Significance of RUNX1 mutation in BCR-ABL1 positive acute myeloid leukemia – a diagnostic dilemma in a young woman with persistent bleeding

Sharmila Ghosh, Jacquelyn J. Roth, Daria Babushok & Megan Lim, Leukemia and Lymphoma 63(8): 1975-197, 2022, PMID:35290157

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AMP case report: A case of a rare myeloid neoplasm presenting with features mimicking primary myelofibrosis

Neha Gupta, Selina Luger, Dale M. Frank, Jacquelyn J. Roth, Salvatore F. Priore, CAP Today, 2022

TP53 Mutation and Extraneural Metastasis of Glioblastoma: Insights From an Institutional Experience and Comprehensive Literature Review

Zhang X, Katsakhyan L, LiVolsi VA, Roth JJ, Rassekh CH, Bagley SJ, Nasrallah MP, Am J Surg Pathol. 45(11): 1516-1526, 2021, PMID:34366423

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Useful Case Examples for Troubleshooting Quality Issues in a Massively Parallel Sequencing Laboratory

A. Dusenbery, V. Van Deerlin, S. Priore, J. Roth, J Mol Diagn 23(11): 1640, 2021