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American Journal of Medical Genetics. Part A|July 10, 2025
First Report of BAP1-Associated PolyposisAngela L Jacobson, Maegan E Roberts, Lindsey Byrne, et al.
American Journal of Human Genetics|June 12, 2018
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair GenesBrian H Shirts, Eric Q Konnick, Sarah Upham, et al.
JCO Precision Oncology|June 17, 2024
Combined Germline and Mosaic SDHA Mutation Is Associated With a Multicancer Syndrome Including Neuroblastoma, Renal Cancer, and Multifocal GI TumorLee D Cranmer, Eric Q Konnick, Jennifer R Yoshida, et al.
Journal of Medical Genetics|June 26, 2025
Long-read DNA and RNA sequencing for inherited polyposis and colorectal cancer: cryptic intronic variants and multiple mutational mechanismsAngela L Jacobson, Amal AbuRayyan, Suleyman Gulsuner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 5, 2016
Improving performance of multigene panels for genomic analysis of cancer predispositionBrian H Shirts, Silvia Casadei, Angela L Jacobson, et al.
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