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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.
Germline TP53 variants and susceptibility to osteosarcoma.
Mirabello L, Yeager M, Mai PL, Gastier-Foster JM, Gorlick R, Khanna C, Patiño-Garcia A, Sierrasesúmaga L, Lecanda F, Andrulis IL, Wunder JS, Gokgoz N, Barkauskas DA, Zhang X, Vogt A, Jones K, Boland JF, Chanock SJ, Savage SA. Mirabello L, et al. Among authors: jones k. J Natl Cancer Inst. 2015 Apr 20;107(7):djv101. doi: 10.1093/jnci/djv101. Print 2015 Jul. J Natl Cancer Inst. 2015. PMID: 25896519 Free PMC article.
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.
Yang XR, Rotunno M, Xiao Y, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Bennett H, Graham C, Sampson JN, Malasky M, Vogt A, Zhu B, Bianchi-Scarra G, Bruno W, Queirolo P, Fornarini G, Hansson J, Tuominen R, Burdett L, Hicks B, Hutchinson A, Jones K, Yeager M, Chanock SJ, Landi MT, Höiom V, Olsson H, Gruis N, Ghiorzo P, Tucker MA, Goldstein AM. Yang XR, et al. Among authors: jones k. Hum Genet. 2016 Nov;135(11):1241-1249. doi: 10.1007/s00439-016-1715-1. Epub 2016 Jul 23. Hum Genet. 2016. PMID: 27449771 Free PMC article.
Whole exome sequencing in families with CLL detects a variant in Integrin β 2 associated with disease susceptibility.
Goldin LR, McMaster ML, Rotunno M, Herman SE, Jones K, Zhu B, Boland J, Burdett L, Hicks B, Ravichandran S, Luke BT, Yeager M, Fontaine L, Goldstein AM, Chanock SJ, Tucker MA, Wiestner A, Marti G, Caporaso NE. Goldin LR, et al. Among authors: jones k. Blood. 2016 Nov 3;128(18):2261-2263. doi: 10.1182/blood-2016-02-697771. Epub 2016 Sep 14. Blood. 2016. PMID: 27629550 Free PMC article. No abstract available.
Effect of Recipient Age and Stem Cell Source on the Association between Donor Telomere Length and Survival after Allogeneic Unrelated Hematopoietic Cell Transplantation for Severe Aplastic Anemia.
Gadalla SM, Wang T, Dagnall C, Haagenson M, Spellman SR, Hicks B, Jones K, Katki HA, Lee SJ, Savage SA. Gadalla SM, et al. Among authors: jones k. Biol Blood Marrow Transplant. 2016 Dec;22(12):2276-2282. doi: 10.1016/j.bbmt.2016.09.012. Epub 2016 Sep 15. Biol Blood Marrow Transplant. 2016. PMID: 27641680 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.
Relative Telomere Length before Hematopoietic Cell Transplantation and Outcome after Unrelated Donor Hematopoietic Cell Transplantation for Acute Leukemia.
Wang Y, Wang T, Dagnall C, Haagenson M, Spellman SR, Hicks B, Jones K, Lee SJ, Savage SA, Gadalla SM. Wang Y, et al. Among authors: jones k. Biol Blood Marrow Transplant. 2017 Jul;23(7):1054-1058. doi: 10.1016/j.bbmt.2017.03.032. Epub 2017 Apr 4. Biol Blood Marrow Transplant. 2017. PMID: 28389255 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.
8,633 results