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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790.
N Engl J Med. 2021.
PMID: 34758253
Free PMC article.
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Martin AR, Williams E, Foulger RE, Leigh S, Daugherty LC, Niblock O, Leong IUS, Smith KR, Gerasimenko O, Haraldsdottir E, Thomas E, Scott RH, Baple E, Tucci A, Brittain H, de Burca A, Ibañez K, Kasperaviciute D, Smedley D, Caulfield M, Rendon A, McDonagh EM.
Martin AR, et al. Among authors: niblock o.
Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.
Nat Genet. 2019.
PMID: 31676867
No abstract available.
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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: niblock o.
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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