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Page 1
Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma.
Kelley MJ, Shi J, Ballew B, Hyland PL, Li WQ, Rotunno M, Alcorta DA, Liebsch NJ, Mitchell J, Bass S, Roberson D, Boland J, Cullen M, He J, Burdette L, Yeager M, Chanock SJ, Parry DM, Goldstein AM, Yang XR. Kelley MJ, et al. Among authors: ballew b. Hum Genet. 2014 Oct;133(10):1289-97. doi: 10.1007/s00439-014-1463-z. Epub 2014 Jul 4. Hum Genet. 2014. PMID: 24990759 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. Among authors: ballew b. 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.
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.
Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival.
Bai J, Shi J, Li C, Wang S, Zhang T, Hua X, Zhu B, Koka H, Wu HH, Song L, Wang D, Wang M, Zhou W, Ballew BJ, Zhu B, Hicks B, Mirabello L, Parry DM, Zhai Y, Li M, Du J, Wang J, Zhang S, Liu Q, Zhao P, Gui S, Goldstein AM, Zhang Y, Yang XR. Bai J, et al. Among authors: ballew bj. Nat Commun. 2021 Feb 3;12(1):757. doi: 10.1038/s41467-021-21026-5. Nat Commun. 2021. PMID: 33536423 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. 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.
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.
1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.
Brodie SA, Rodriguez-Aulet JP, Giri N, Dai J, Steinberg M, Waterfall JJ, Roberson D, Ballew BJ, Zhou W, Anzick SL, Jiang Y, Wang Y, Zhu YJ, Meltzer PS, Boland J, Alter BP, Savage SA. Brodie SA, et al. Among authors: ballew bj. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004564. doi: 10.1101/mcs.a004564. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31836590 Free PMC article.
Corrigendum: 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.
Brodie SA, Rodriguez-Aulet JP, Giri N, Dai J, Steinberg M, J Waterfall J, Roberson D, Ballew BJ, Zhou W, Anzick SL, Jiang Y, Wang Y, Zhu YJ, Meltzer PS, Boland J, Alter BP, Savage SA. Brodie SA, et al. Among authors: ballew bj. Cold Spring Harb Mol Case Stud. 2020 Feb 3;6(1):a005116. doi: 10.1101/mcs.a005116. Print 2020 Feb. Cold Spring Harb Mol Case Stud. 2020. PMID: 32014861 Free PMC article. No abstract available.
Lack of transgenerational effects of ionizing radiation exposure from the Chernobyl accident.
Yeager M, Machiela MJ, Kothiyal P, Dean M, Bodelon C, Suman S, Wang M, Mirabello L, Nelson CW, Zhou W, Palmer C, Ballew B, Colli LM, Freedman ND, Dagnall C, Hutchinson A, Vij V, Maruvka Y, Hatch M, Illienko I, Belayev Y, Nakamura N, Chumak V, Bakhanova E, Belyi D, Kryuchkov V, Golovanov I, Gudzenko N, Cahoon EK, Albert P, Drozdovitch V, Little MP, Mabuchi K, Stewart C, Getz G, Bazyka D, Berrington de Gonzalez A, Chanock SJ. Yeager M, et al. Among authors: ballew b. Science. 2021 May 14;372(6543):725-729. doi: 10.1126/science.abg2365. Epub 2021 Apr 22. Science. 2021. PMID: 33888597 Free PMC article.
20 results