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Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA. Kocak H, et al. Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18. Genes Dev. 2014. PMID: 25233904 Free PMC article.
Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.
Pemov A, Sung H, Hyland PL, Sloan JL, Ruppert SL, Baldwin AM, Boland JF, Bass SE, Lee HJ, Jones KM, Zhang X; NISC Comparative Sequencing Program; Mullikin JC, Widemann BC, Wilson AF, Stewart DR. Pemov A, et al. PLoS Genet. 2014 Oct 16;10(10):e1004575. doi: 10.1371/journal.pgen.1004575. eCollection 2014 Oct. PLoS Genet. 2014. PMID: 25329635 Free PMC article.
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
Mirabello L, Khincha PP, Ellis SR, Giri N, Brodie S, Chandrasekharappa SC, Donovan FX, Zhou W, Hicks BD, Boland JF, Yeager M, Jones K, Zhu B, Wang M, Alter BP, Savage SA. Mirabello L, et al. Among authors: jones k. J Med Genet. 2017 Jun;54(6):417-425. doi: 10.1136/jmedgenet-2016-104346. Epub 2017 Mar 9. J Med Genet. 2017. PMID: 28280134 Clinical Trial.
Association of Aflatoxin and Gallbladder Cancer.
Koshiol J, Gao YT, Dean M, Egner P, Nepal C, Jones K, Wang B, Rashid A, Luo W, Van Dyke AL, Ferreccio C, Malasky M, Shen MC, Zhu B, Andersen JB, Hildesheim A, Hsing AW, Groopman J. Koshiol J, et al. Among authors: jones k. Gastroenterology. 2017 Aug;153(2):488-494.e1. doi: 10.1053/j.gastro.2017.04.005. Epub 2017 Apr 17. Gastroenterology. 2017. PMID: 28428144 Free PMC article.
Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia.
Yang XR, Devi BCR, Sung H, Guida J, Mucaki EJ, Xiao Y, Best A, Garland L, Xie Y, Hu N, Rodriguez-Herrera M, Wang C, Jones K, Luo W, Hicks B, Tang TS, Moitra K, Rogan PK, Dean M. Yang XR, et al. Among authors: jones k. Breast Cancer Res Treat. 2017 Oct;165(3):687-697. doi: 10.1007/s10549-017-4356-8. Epub 2017 Jun 29. Breast Cancer Res Treat. 2017. PMID: 28664506 Free PMC article.
Rare germline variants in known melanoma susceptibility genes in familial melanoma.
Goldstein AM, Xiao Y, Sampson J, Zhu B, Rotunno M, Bennett H, Wen Y, Jones K, Vogt A, Burdette L, Luo W, Zhu B, Yeager M, Hicks B, Han J, De Vivo I, Koutros S, Andreotti G, Beane-Freeman L, Purdue M, Freedman ND, Chanock SJ, Tucker MA, Yang XR. Goldstein AM, et al. Among authors: jones k. Hum Mol Genet. 2017 Dec 15;26(24):4886-4895. doi: 10.1093/hmg/ddx368. Hum Mol Genet. 2017. PMID: 29036293 Free PMC article.
Germline mutations in Protection of Telomeres 1 in two families with Hodgkin lymphoma.
McMaster ML, Sun C, Landi MT, Savage SA, Rotunno M, Yang XR, Jones K, Vogt A, Hutchinson A, Zhu B, Wang M, Hicks B, Thirunavukarason A, Stewart DR, Koutros S, Goldstein AM, Chanock SJ, Caporaso NE, Tucker MA, Goldin LR, Liu Y. McMaster ML, et al. Among authors: jones k. Br J Haematol. 2018 May;181(3):372-377. doi: 10.1111/bjh.15203. Br J Haematol. 2018. PMID: 29693246 Free PMC article.
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas.
Pemov A, Hansen NF, Sindiri S, Patidar R, Higham CS, Dombi E, Miettinen MM, Fetsch P, Brems H, Chandrasekharappa SC, Jones K, Zhu B, Wei JS; National Intramural Sequencing Center (NISC) Comparative Sequencing Program; National Cancer Institute (NCI) Division of Cancer Epidemiology and Genetics (DCEG) Cancer Genomics Research Laboratory; Mullikin JC, Wallace MR, Khan J, Legius E, Widemann BC, Stewart DR. Pemov A, et al. Among authors: jones k. Neuro Oncol. 2019 Aug 5;21(8):981-992. doi: 10.1093/neuonc/noz028. Neuro Oncol. 2019. PMID: 30722027 Free PMC article.
In search of genetic factors predisposing to familial hairy cell leukemia (HCL): exome-sequencing of four multiplex HCL pedigrees.
Pemov A, Pathak A, Jones SJ, Dewan R, Merberg J, Karra S, Kim J, Arons E, Ravichandran S, Luke BT, Suman S, Yeager M; NCI DCEG Cancer Genomics Research Laboratory; Dyer MJS, Lynch HT, Greene MH, Caporaso NE, Kreitman RJ, Goldin LR, Spinelli JJ, Brooks-Wilson A, McMaster ML, Stewart DR. Pemov A, et al. Leukemia. 2020 Jul;34(7):1934-1938. doi: 10.1038/s41375-019-0702-7. Epub 2020 Jan 28. Leukemia. 2020. PMID: 31992839 Free PMC article. No abstract available.
8,465 results