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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.
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.
Burris AM, Ballew BJ, Kentosh JB, Turner CE, Norton SA; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Giri N, Alter BP, Nellan A, Gamper C, Hartman KR, Savage SA. Burris AM, et al. Pediatr Neurol. 2016 Mar;56:62-68.e1. doi: 10.1016/j.pediatrneurol.2015.12.005. Epub 2015 Dec 19. Pediatr Neurol. 2016. PMID: 26810774 Free PMC article.
Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.
de Andrade KC, Mirabello L, Stewart DR, Karlins E, Koster R, Wang M, Gapstur SM, Gaudet MM, Freedman ND, Landi MT, Lemonnier N, Hainaut P, Savage SA, Achatz MI. de Andrade KC, et al. Among authors: stewart dr. Hum Mutat. 2017 Dec;38(12):1723-1730. doi: 10.1002/humu.23320. Epub 2017 Sep 21. Hum Mutat. 2017. PMID: 28861920 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: stewart dr. Br J Haematol. 2018 May;181(3):372-377. doi: 10.1111/bjh.15203. Br J Haematol. 2018. PMID: 29693246 Free PMC article.
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study.
Khan NE, Ling A, Raske ME, Harney LA, Carr AG, Field A, Harris AK, Williams GM, Dehner LP, Messinger YH, Hill DA, Schultz KAP, Stewart DR. Khan NE, et al. Among authors: stewart dr. Pediatr Nephrol. 2018 Dec;33(12):2281-2288. doi: 10.1007/s00467-018-4040-1. Epub 2018 Sep 3. Pediatr Nephrol. 2018. PMID: 30178239 Free PMC article.
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study.
Huryn LA, Turriff A, Harney LA, Carr AG, Chevez-Barrios P, Gombos DS, Ram R, Hufnagel RB, Hill DA, Zein WM, Schultz KAP, Bishop R, Stewart DR. Huryn LA, et al. Among authors: stewart dr. Ophthalmology. 2019 Feb;126(2):296-304. doi: 10.1016/j.ophtha.2018.09.038. Epub 2018 Oct 17. Ophthalmology. 2019. PMID: 30339877 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: stewart dr. 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.
278 results