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Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J, Ney G, Frone MN, Haley JS, Mirshahi UL, Astiazaran-Symonds E, Shandrina M, Urban G, Rao HS, Stahl R, Golden A, Yohe ME, Gross AM, Ding Y, Carey DJ, Gelb BD, Stewart DR. Kim J, et al. medRxiv [Preprint]. 2024 Oct 11:2024.10.09.24314324. doi: 10.1101/2024.10.09.24314324. medRxiv. 2024. PMID: 39802765 Free PMC article. Preprint.
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: kim j. JAMA Netw Open. 2021 Feb 1;4(2):e210112. doi: 10.1001/jamanetworkopen.2021.0112. JAMA Netw Open. 2021. PMID: 33630087 Free PMC article.
Intronic Germline DICER1 Variants in Patients With Sertoli-Leydig Cell Tumor.
Fraire CR, Mallinger PR, Hatton JN, Kim J, Dickens DS, Argenta PA, Milanovich S, Hartshorne T, Carey DJ, Haley JS, Urban G, Lee J, Hill DA, Stewart DR, Schultz KAP, Chen KS. Fraire CR, et al. Among authors: kim j. JCO Precis Oncol. 2023 Sep;7:e2300189. doi: 10.1200/PO.23.00189. JCO Precis Oncol. 2023. PMID: 37883719 Free PMC article.
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
de Andrade KC, Frone MN, Wegman-Ostrosky T, Khincha PP, Kim J, Amadou A, Santiago KM, Fortes FP, Lemonnier N, Mirabello L, Stewart DR, Hainaut P, Kowalski LP, Savage SA, Achatz MI. de Andrade KC, et al. Among authors: kim j. Hum Mutat. 2019 Jan;40(1):97-105. doi: 10.1002/humu.23673. Epub 2018 Nov 19. Hum Mutat. 2019. PMID: 30352134 Free PMC article.
135,809 results
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