Rare Disease Gene Association Discovery in the 100,000 Genomes Project.
Valentina Cipriani,Letizia Vestito,Emma F Magavern,Julius O B Jacobsen,Gavin Arno,Elijah R Behr,Katherine A Benson,Marta Bertoli,Detlef Bockenhauer,Michael R Bowl,Kate Burley,Li F Chan,Patrick Chinnery,Peter J Conlon, Marcos A Costa,Alice E Davidson,Sally J Dawson,Elhussein A E Elhassan,Sarah E Flanagan,Marta Futema,Daniel P Gale,Sonia García-Ruiz, Cecilia Gonzalez Corcia, Helen R Griffin,Sophie Hambleton,Amy R Hicks,Henry Houlden,Richard S Houlston,Sarah A Howles,Robert Kleta, Iris Lekkerkerker,Siying Lin,Petra Liskova, Hannah H Mitchison,Heba Morsy,Andrew D Mumford,William G Newman,Ruxandra Neatu,Edel A O'Toole,Albert C M Ong,Alistair T Pagnamenta,Shamima Rahman,Neil Rajan,Peter N Robinson,Mina Ryten,Omid Sadeghi-Alavijeh,John A Sayer,Claire L Shovlin,Jenny C Taylor,Omri Teltsh,Ian Tomlinson,Arianna Tucci,Clare Turnbull,Albertien M van Eerde,James S Ware,Laura M Watts,Andrew R Webster,Sarah K Westbury,Sean L Zheng,Mark Caulfield,Damian Smedley
Nature（2025）
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