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Unusual phenotypes in patients with a pathogenic germline variant in DICER1.
Venger K, Elbracht M, Carlens J, Deutz P, Zeppernick F, Lassay L, Kratz C, Zenker M, Kim J, Stewart DR, Wieland I, Schultz KAP, Schwerk N, Kurth I, Kontny U. Venger K, et al. Among authors: kim j. Fam Cancer. 2023 Oct;22(4):475-480. doi: 10.1007/s10689-021-00271-z. Epub 2021 Jul 31. Fam Cancer. 2023. PMID: 34331184 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.
Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors.
Vasta LM, McMaster ML, Harney LA, Ling A, Kim J, Harris AK, Carr AG, Damrauer SM, Rader DJ, Kember RL, Kanetsky PA, Nathanson KL, Pyle LC, Greene MH, Schultz KA, Stewart DR; Regeneron Genetics Center (RGC) Research Team. Vasta LM, et al. Among authors: kim j. Cancer Genet. 2020 Oct;248-249:49-56. doi: 10.1016/j.cancergen.2020.10.002. Epub 2020 Oct 24. Cancer Genet. 2020. PMID: 33158809 Free PMC article.
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.
Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma.
Kim J, Light N, Subasri V, Young EL, Wegman-Ostrosky T, Barkauskas DA, Hall D, Lupo PJ, Patidar R, Maese LD, Jones K, Wang M, Tavtigian SV, Wu D, Shlien A, Telfer F, Goldenberg A, Skapek SX, Wei JS, Wen X, Catchpoole D, Hawkins DS, Schiffman JD, Khan J, Malkin D, Stewart DR. Kim J, et al. JCO Precis Oncol. 2021 Jan 11;5:PO.20.00218. doi: 10.1200/PO.20.00218. eCollection 2021. JCO Precis Oncol. 2021. PMID: 34095712 Free PMC article.
Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family.
Brown KM, Xu M, Sargen M, Jang H, Zhang M, Zhang T, Zhu B, Jones K, Kim J, Mendoza L, Hayward NK, Tucker MA, Goldstein AM, Yang XR, Stewart DR, Hicks B, Consonni D, Pesatori AC, Fargnoli MC, Peris K, Stratigos A, Menin C, Ghiorzo P, Puig S, Nagore E; MelaNostrum Consortium; Andresson T, Nussinov R, Calista D, Landi MT. Brown KM, et al. Among authors: kim j. Fam Cancer. 2022 Jul;21(3):347-355. doi: 10.1007/s10689-021-00267-9. Epub 2021 Jul 3. Fam Cancer. 2022. PMID: 34215961 Free PMC article.
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
Kim J, Gianferante M, Karyadi DM, Hartley SW, Frone MN, Luo W, Robison LL, Armstrong GT, Bhatia S, Dean M, Yeager M, Zhu B, Song L, Sampson JN, Yasui Y, Leisenring WM, Brodie SA, de Andrade KC, Fortes FP, Goldstein AM, Khincha PP, Machiela MJ, McMaster ML, Nickerson ML, Oba L, Pemov A, Pinheiro M, Rotunno M, Santiago K, Wegman-Ostrosky T, Diver WR, Teras L, Freedman ND, Hicks BD, Zhu B, Wang M, Jones K, Hutchinson AA, Dagnall C, Savage SA, Tucker MA, Chanock SJ, Morton LM, Stewart DR, Mirabello L. Kim J, et al. JNCI Cancer Spectr. 2021 Jan 23;5(2):pkab007. doi: 10.1093/jncics/pkab007. eCollection 2021 Apr. JNCI Cancer Spectr. 2021. PMID: 34308104 Free PMC article.
Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study.
Pemov A, Wegman-Ostrosky T, Kim J, Koutros S, Douthitt B, Jones K, Zhu B, Baris D, Schwenn M, Johnson A, Karagas MR, Carter BD, McCullough ML, Landi MT, Freedman ND, Albanes D, Silverman DT, Rothman N, Caporaso NE, Greene MH, Fraumeni JF Jr, Stewart DR. Pemov A, et al. Among authors: kim j. JCO Precis Oncol. 2021 Dec 22;5:PO.21.00115. doi: 10.1200/PO.21.00115. eCollection 2021. JCO Precis Oncol. 2021. PMID: 34964002 Free PMC article.
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