Jacquelyn Roth, PhD, FACMG
Associate Professor of Clinical Pathology and Laboratory Medicine
Assistant Professor, Penn
Director of Quality and Compliance, Division of Precision and Computational Diagnostics, Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania
Associate Vice Chair for Quality and Patient Safety, Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania
CAP/CLIA Director, Cytogenomics, Division of Precision and Computational Diagnostics, Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania
Director, Oncology Fluorescence in situ Hybridization Laboratory, Division of Precision and Computational Diagnostics, Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania
Department: Pathology and Laboratory Medicine
Contact information
3020 Market Street
Suite 220
Philadelphia, PA 19104
Suite 220
Philadelphia, PA 19104
Links
Susan G. Komen Philadelphia Promotional Video; "Celebrating 25 Years"
Susan G. Komen Philadelphia Promotional Video; "Philadelphia's Own Little Rocky"
Susan G. Komen Philadelphia Promotional Video; "Celebrating 25 Years"
Susan G. Komen Philadelphia Promotional Video; "Philadelphia's Own Little Rocky"
Education:
BA (Major - Biology, Minor - Applied Mathematics)
Franklin & Marshall College, 2004.
PhD (Genetics)
Thomas Jefferson University, 2011.
Permanent linkBA (Major - Biology, Minor - Applied Mathematics)
Franklin & Marshall College, 2004.
PhD (Genetics)
Thomas Jefferson University, 2011.
Selected Publications
Jacqueline Cappadocia, Kara N Maxwell, Katherine L Nathanson, Stephen Bagley, Jacquelyn Powers, Eitan Halper-Stromberg, Jacquelyn J Roth, Susan Domchek, Payal D Shah: Exploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort. J Med Genet Online, ahead of print, Aug 2025 Notes: doi: 10.1136/jmg-2025-110764.Wei Du, Shunsuke Koga, Gabriel Caponetti, Jacquelyn J. Roth, Jennifer J.D. Morrissette, Jakub Svoboda, Guang Yang: Evolving Dynamics of CHIP Variants Post CD19-directed CAR-T therapy in a CLL Patient: A Case Report and Literature Review. International Journal of Laboratory Hematology 2025 Notes: Notes: Poster Presentation at the International Symposium on Technological Innovations in Laboratory Hematology, Halifax, Nova Scotia.
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: Inherited Basaloid Neoplasms Associated With SUFU Pathogenic Variants. JAMA Dermatol. 160(11): 1220-1224, Sept 2024 Notes: doi:10.1001/jamadermatol.2024.3315.
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: CTDSP2::GLI1 fusion in glioblastoma: A diagnostic challenge through tumor heterogeneity. J Neuropathol Exp Neurol 83(12): 1076-1080, July 2024 Notes: https://doi.org/10.1093/jnen/nlae073.
A Viaene, S Stone, J Roth, L Surrey, M Fisher, S Bagley, C Hawkins, M Santi, M Nasrallah: FGFR alterations in pediatric, young adult, and adult brain tumors: A comparison of histologic, molecular, and clinical features. JNEN 83(6): 521, May 2024 Notes: Poster presentation at the American Association of Neuropathologists Annual Meeting, Olympic Valley, CA.
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: Brief Report: Impact of Reflex Testing on Tissue-Based Molecular Genotyping in Patients With Advanced Non-Squamous Non-Small Cell Lung Cancer. Clin Lung Cancer 25(3): 262-265, May 2024.
S. Herlihy, C. Gentile, D. Lieberman, J. Milano, S. Priore, J. Roth: Establishing a Pathway for Utilization of Clinical Laboratory Resources for Research Studies and Clinical Trials. J. Mol Diagn 25(11): S89, Nov 2023 Notes: Poster presentation at the Association for Molecular Pathology Annual Meeting, Salt Lake City, UT.
C. Poveda-Rogers, A. Landi, A. Chitturi, S. Priore, J. Roth, S. Herlihy: Quality Control of a New Probe Lot for a Laboratory Developed Hybrid-Capture NGS Assay. J. Mol. Diagn 25(11): S152, Nov 2023 Notes: Poster presentation at the Association for Molecular Pathology Annual Meeting, Salt Lake City, UT.
A. Chitturi, D. Lieberman, C. Poveda-Rogers, J. Roth, S. Herlihy, J. Morrissette, S. Priore: Creation of an Automated VCF Positive Control Truth Set to Facilitate Quality Control Review J. Mol Diagn 25(11): S87, Nov 2023 Notes: Poster presentation at the Association for Molecular Pathology Annual Meeting, Salt Lake City, UT.
F. El-Sharkawy, S. Priore, J. Roth: Detection of Clinically Relevant Results in Specimens Failing to Pass Quality Control. J. Mol Diagn 25(11): S144, Nov 2023 Notes: Poster presentation at the Association for Molecular Pathology Annual Meeting, Salt Lake City, UT.