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Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
JAMA Ophthalmol. 2017 Apr 1;135(4):339-347. doi: 10.1001/jamaophthalmol.2017.0046.
JAMA Ophthalmol. 2017.
PMID: 28253385
Free article.
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Stark Z, Foulger RE, Williams E, Thompson BA, Patel C, Lunke S, Snow C, Leong IUS, Puzriakova A, Daugherty LC, Leigh S, Boustred C, Niblock O, Rueda-Martin A, Gerasimenko O, Savage K, Bellamy W, Lin VSK, Valls R, Gordon L, Brittain HK, Thomas ERA, Taylor Tavares AL, McEntagart M, White SM, Tan TY, Yeung A, Downie L, Macciocca I, Savva E, Lee C, Roesley A, De Fazio P, Deller J, Deans ZC, Hill SL, Caulfield MJ, North KN, Scott RH, Rendon A, Hofmann O, McDonagh EM.
Stark Z, et al. Among authors: rueda martin a.
Am J Hum Genet. 2021 Sep 2;108(9):1551-1557. doi: 10.1016/j.ajhg.2021.06.020. Epub 2021 Jul 29.
Am J Hum Genet. 2021.
PMID: 34329581
Free PMC article.
Review.
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Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.
Sosinsky A, Ambrose J, Cross W, Turnbull C, Henderson S, Jones L, Hamblin A, Arumugam P, Chan G, Chubb D, Noyvert B, Mitchell J, Walker S, Bowman K, Pasko D, Buongermino Pereira M, Volkova N, Rueda-Martin A, Perez-Gil D, Lopez J, Pullinger J, Siddiq A, Zainy T, Choudhury T, Yavorska O, Fowler T, Bentley D, Kingsley C, Hing S, Deans Z, Rendon A, Hill S, Caulfield M, Murugaesu N.
Sosinsky A, et al. Among authors: rueda martin a.
Nat Med. 2024 Jan;30(1):279-289. doi: 10.1038/s41591-023-02682-0. Epub 2024 Jan 11.
Nat Med. 2024.
PMID: 38200255
Free PMC article.
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