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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: parry dm. 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 germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
Xia B, Biswas K, Foo TK, Gomes TT, Riedel-Topper M, Southon E, Kang Z, Huo Y, Reid S, Stauffer S, Zhou W, Zhu B, Koka H, Yepes S, Brodie SA, Jones K, Vogt A, Zhu B, Carter B, Freedman ND, Hicks B, Yeager M, Chanock SJ, Couch F, Parry DM, Monteiro AN, Goldstein AM, Carvalho MA, Sharan SK, Yang XR. Xia B, et al. Among authors: parry dm. Hum Mutat. 2022 Oct;43(10):1396-1407. doi: 10.1002/humu.24427. Epub 2022 Jul 12. Hum Mutat. 2022. PMID: 35762214 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: parry dm. Nat Commun. 2021 Feb 3;12(1):757. doi: 10.1038/s41467-021-21026-5. Nat Commun. 2021. PMID: 33536423 Free PMC article.
Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility.
Yepes S, Shah NN, Bai J, Koka H, Li C, Gui S, McMaster ML, Xiao Y, Jones K, Wang M, Vogt A, Zhu B, Zhu B, Hutchinson A, Yeager M, Hicks B, Carter B, Freedman ND, Beane-Freeman L, Chanock SJ, Zhang Y, Parry DM, Yang XR, Goldstein AM. Yepes S, et al. Among authors: parry dm. Cancers (Basel). 2021 May 30;13(11):2704. doi: 10.3390/cancers13112704. Cancers (Basel). 2021. PMID: 34070849 Free PMC article.
146 results