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Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.
de Andrade KC, Strande NT, Kim J, Haley JS, Hatton JN, Frone MN, Khincha PP, Thone GM, Mirshahi UL, Schneider C, Desai H, Dove JT, Smelser DT; Penn Medicine BioBank; Regeneron Genetics Center; Levine AJ, Maxwell KN, Stewart DR, Carey DJ, Savage SA. de Andrade KC, et al. Among authors: kim j. HGG Adv. 2024 Jan 11;5(1):100242. doi: 10.1016/j.xhgg.2023.100242. Epub 2023 Sep 29. HGG Adv. 2024. PMID: 37777824 Free PMC article.
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR. Beck DB, et al. Among authors: kim j. JAMA. 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. JAMA. 2023. PMID: 36692560 Free PMC article.
Germline pathogenic variants in 786 neuroblastoma patients.
Kim J, Vaksman Z, Egolf LE, Kaufman R, Evans JP, Conkrite KL, Danesh A, Lopez G, Randall MP, Dent MH, Farra LM, Menghani N, Dymek M, Desai H, Hausler R; Penn Medicine BioBank; Regeneron Genetics Center; Cancer Genomics Research Laboratory; Guidry Auvil JM, Gerhard DS, Hakonarson H, Maxwell KN, Cole KA, Pugh TJ, Bosse KR, Khan J, Wei JS, Maris JM, Stewart DR, Diskin SJ. Kim J, et al. medRxiv [Preprint]. 2023 Jan 25:2023.01.23.23284864. doi: 10.1101/2023.01.23.23284864. medRxiv. 2023. Update in: J Natl Cancer Inst. 2024 Jan 10;116(1):149-159. doi: 10.1093/jnci/djad183 PMID: 36747619 Free PMC article. Updated. Preprint.
Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.
Kim J, Vaksman Z, Egolf LE, Kaufman R, Evans JP, Conkrite KL, Danesh A, Lopez G, Randall MP, Dent MH, Farra LM, Menghani NL, Dymek M, Desai H, Hausler R, Hicks B, Guidry Auvil M, Gerhard DS, Hakonarson H, Maxwell KN, Cole KA, Pugh TJ, Bosse KR, Khan J, Wei JS, Maris JM, Stewart DR, Diskin SJ. Kim J, et al. J Natl Cancer Inst. 2024 Jan 10;116(1):149-159. doi: 10.1093/jnci/djad183. J Natl Cancer Inst. 2024. PMID: 37688579 Free PMC article.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hatton JN, Frone MN, Cox HC, Crowley SB, Hiraki S, Yokoyama NN, Abul-Husn NS, Amatruda JF, Anderson MJ, Bofill-De Ros X, Carr AG, Chao EC, Chen KS, Gu S, Higgs C, Machado J, Ritter D, Schultz KA, Soper ER, Wu MK, Mester JL, Kim J, Foulkes WD, Witkowski L, Stewart DR. Hatton JN, et al. Among authors: kim j. Hum Mutat. 2023;2023:9537832. doi: 10.1155/2023/9537832. Epub 2023 Mar 29. Hum Mutat. 2023. PMID: 38084291 Free PMC article.
Prevalence of lung cysts in adolescents and adults with a germline DICER1 pathogenic/likely pathogenic variant: a report from the National Institutes of Health and International Pleuropulmonary Blastoma/DICER1 Registry.
Nelson AT, Vasta LM, Watson D, Kim J, Harris AK, Best AF, Harney LA, Carr AG, Frederickson N, Dehner LP, Kratz CP, Hagedorn KN, Mize WA, Ling A, Messinger YH, Hill DA, Schultz KAP, Stewart DR. Nelson AT, et al. Among authors: kim j. Thorax. 2024 Jun 14;79(7):644-651. doi: 10.1136/thorax-2023-221024. Thorax. 2024. PMID: 38508719 Free PMC article.
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A, Kim J, Luo W, Liu J, Graham C, Jones K, DeMangel D, Freedman ND, Dumontet C, Zhu B, McMaster ML, Stewart DR. Pemov A, et al. Among authors: kim j. Blood Neoplasia. 2024 Jun;1(2):100013. doi: 10.1016/j.bneo.2024.100013. Epub 2024 Apr 12. Blood Neoplasia. 2024. PMID: 39036705 Free PMC article.
Genomic ascertainment of CHEK2-related cancer predisposition.
Kim SY, Kim J, Ramos M, Haley J, Smelser D, Rao HS, Mirshahi UL; Geisinger-Regeneron DiscovEHR Collaboration; Graubard BI, Katki HA, Carey D, Stewart DR. Kim SY, et al. Among authors: kim j. medRxiv [Preprint]. 2024 Aug 8:2024.08.07.24311613. doi: 10.1101/2024.08.07.24311613. medRxiv. 2024. PMID: 39371170 Free PMC article. Preprint.
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