Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

Best, S; Yu, J; Lord, J; Roche, M; Watson, CM; Bevers, RPJ; Stuckey, A; Madhusudhan, S; Jewell, R; Sisodiya, SM; Lin, SY; Turner, S; Robinson, H; Leslie, JS; Baple, E; Toomes, C; Inglehearn, C; Wheway, G; Johnson, CA

Johnson, CA (通讯作者)，Univ Leeds, Leeds Inst Med Res, Div Mol Med, Leeds, W Yorkshire, England.

JOURNAL OF MEDICAL GENETICS, 2022; 59 (12): 1151

Abstract

Background The 100 000 Genomes Project (100K) recruited National Health Service patients with eligible rare diseases and cancer between 2016 and 2018.......

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