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Page 1
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Ballew BJ, Joseph V, De S, Sarek G, Vannier JB, Stracker T, Schrader KA, Small TN, O'Reilly R, Manschreck C, Harlan Fleischut MM, Zhang L, Sullivan J, Stratton K, Yeager M, Jacobs K, Giri N, Alter BP, Boland J, Burdett L, Offit K, Boulton SJ, Savage SA, Petrini JH. Ballew BJ, et al. PLoS Genet. 2013 Aug;9(8):e1003695. doi: 10.1371/journal.pgen.1003695. Epub 2013 Aug 29. PLoS Genet. 2013. PMID: 24009516 Free PMC article.
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. Among authors: ballew bj. 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.
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.
Shi J, Yang XR, Ballew B, Rotunno M, Calista D, Fargnoli MC, Ghiorzo P, Bressac-de Paillerets B, Nagore E, Avril MF, Caporaso NE, McMaster ML, Cullen M, Wang Z, Zhang X; NCI DCEG Cancer Sequencing Working Group; NCI DCEG Cancer Genomics Research Laboratory; French Familial Melanoma Study Group; Bruno W, Pastorino L, Queirolo P, Banuls-Roca J, Garcia-Casado Z, Vaysse A, Mohamdi H, Riazalhosseini Y, Foglio M, Jouenne F, Hua X, Hyland PL, Yin J, Vallabhaneni H, Chai W, Minghetti P, Pellegrini C, Ravichandran S, Eggermont A, Lathrop M, Peris K, Scarra GB, Landi G, Savage SA, Sampson JN, He J, Yeager M, Goldin LR, Demenais F, Chanock SJ, Tucker MA, Goldstein AM, Liu Y, Landi MT. Shi J, et al. Nat Genet. 2014 May;46(5):482-6. doi: 10.1038/ng.2941. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686846 Free PMC article.
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA. Mirabello L, et al. Among authors: ballew bj. Blood. 2014 Jul 3;124(1):24-32. doi: 10.1182/blood-2013-11-540278. Epub 2014 May 14. Blood. 2014. PMID: 24829207 Free PMC article.
Novel FANCI mutations in Fanconi anemia with VACTERL association.
Savage SA, Ballew BJ, Giri N; NCI DCEG Cancer Genomics Research Laboratory; Chandrasekharappa SC, Ameziane N, de Winter J, Alter BP; NCI DCEG Cancer Sequencing Working Group. Savage SA, et al. Among authors: ballew bj. Am J Med Genet A. 2016 Feb;170A(2):386-391. doi: 10.1002/ajmg.a.37461. Epub 2015 Nov 21. Am J Med Genet A. 2016. PMID: 26590883 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. Among authors: ballew bj. 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.
Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia.
McReynolds LJ, Wang Y, Thompson AS, Ballew BJ, Kim J, Alter BP, Hicks B, Zhu B, Jones K, Spellman SR, Wang T, Lee SJ, Savage SA, Gadalla SM. McReynolds LJ, et al. Among authors: ballew bj. Biol Blood Marrow Transplant. 2020 May;26(5):817-822. doi: 10.1016/j.bbmt.2020.01.011. Epub 2020 Jan 23. Biol Blood Marrow Transplant. 2020. PMID: 31982544 Free PMC article.
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM. McReynolds LJ, et al. Among authors: ballew bj. Blood. 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. Blood. 2022. PMID: 35776903 Free PMC article.
17 results