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A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.
Mirshahi UL, Kim J, Best AF, Chen ZE, Hu Y, Haley JS, Golden A, Stahl R, Manickam K, Carr AG, Harney LA, Field A, Hatton J, Schultz KAP, Bauer AJ, Hill DA, Rosenberg PS, Murray MF, Carey DJ, Stewart DR. Mirshahi UL, et al. Among authors: haley js. JAMA Netw Open. 2021 Feb 1;4(2):e210112. doi: 10.1001/jamanetworkopen.2021.0112. JAMA Netw Open. 2021. PMID: 33630087 Free PMC article.
Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.
Fiorica PN, Golmard L, Kim J, Bao R, Lin FY, Roy A, Pribnow A, Perrino MR, Masliah-Planchon J, Michalak-Provost S, Wong J, Filser M, Stoppa-Lyonnet D, Bourdeaut F, Brahimi A, Ingster O, Saulnier Sholler G, Jackson SA, Sasaki MM, Fowler T, Ng A, Corbett RJ, Kaufman RS, Haley JS, Carey DJ, Huang KL, Diskin SJ, Rokita JL, Al-Kateb H, McGee RB, Schiffman JD, Chen KS, Stewart DR, Williams Parsons D, Plon SE, Schultz KAP, Onel K. Fiorica PN, et al. Among authors: haley js. Clin Cancer Res. 2025 Apr 14;31(8):1491-1503. doi: 10.1158/1078-0432.CCR-24-2785. Clin Cancer Res. 2025. PMID: 39992227 Free PMC article.
Genomic Ascertainment of CHEK2-Related Cancer Predisposition.
Kim SY, Kim J, Ramos M, Haley J, Smelser D, Rao HS, Mirshahi UL, Nathanson KL, Graubard BI, Katki HA, Carey D, Stewart DR; Geisinger-Regeneron DiscovEHR Collaboration and Penn Medicine Biobank. Kim SY, et al. JAMA Netw Open. 2025 Dec 1;8(12):e2549730. doi: 10.1001/jamanetworkopen.2025.49730. JAMA Netw Open. 2025. PMID: 41396600 Free PMC article.
26 results