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A novel germline gain-of-function variant in PIK3CD.
Rae W, Gao Y, Ward D, Mattocks CJ, Eren E, Williams AP. Rae W, et al. Among authors: mattocks cj. Clin Immunol. 2017 Aug;181:29-31. doi: 10.1016/j.clim.2017.05.020. Epub 2017 May 31. Clin Immunol. 2017. PMID: 28578023 No abstract available.
Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.
Rae W, Ward D, Mattocks CJ, Gao Y, Pengelly RJ, Patel SV, Ennis S, Faust SN, Williams AP. Rae W, et al. Among authors: mattocks cj. Clin Transl Immunology. 2017 Sep 15;6(9):e155. doi: 10.1038/cti.2017.38. eCollection 2017 Sep. Clin Transl Immunology. 2017. PMID: 28983403 Free PMC article.
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).
Norman CS, O'Gorman L, Gibson J, Pengelly RJ, Baralle D, Ratnayaka JA, Griffiths H, Rose-Zerilli M, Ranger M, Bunyan D, Lee H, Page R, Newall T, Shawkat F, Mattocks C, Ward D, Ennis S, Self JE. Norman CS, et al. Sci Rep. 2017 Jun 30;7(1):4415. doi: 10.1038/s41598-017-04401-5. Sci Rep. 2017. PMID: 28667292 Free PMC article.
Critical points for an accurate human genome analysis.
White SJ, Laros JFJ, Bakker E, Cambon-Thomsen A, Eden M, Leonard S, Lochmüller H, Matthijs G, Mattocks C, Patton S, Payne K, Scheffer H, Souche E, Thomassen E, Thompson R, Traeger-Synodinos J, Van Vooren S, Janssen B, den Dunnen JT. White SJ, et al. Hum Mutat. 2017 Aug;38(8):912-921. doi: 10.1002/humu.23238. Epub 2017 Jun 16. Hum Mutat. 2017. PMID: 28471515 Review.
25 results