Functional And In-Silico Interrogation Of Rare Genomic Variants Impacting Rna Splicing For The Diagnosis Of Genomic Disorders
Jamie M Ellingford,Huw B Thomas,Charlie Rowlands,Gavin Arno,Glenda Beaman,Beatriz Gomes-Silva,Christopher Campbell,Nicole Gossan,Claire Hardcastle,Kevin Webb,Christopher O’Callaghan,Robert A Hirst,Simon Ramsden,Elizabeth Jones,Jill Clayton-Smith,Andrew R Webster, Genomics England Research Consortium,Raymond T O’Keefe,William G Newman,Graeme CM Black, J. C. Ambrose, E. L. Baple,M. Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred,M. J. Caulfield,G. C. Chan, C. E. H. Craig, L. C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R. E. Foulger,T. Fowler, P. Furió-Tarí, J. M. Hackett, D. Halai, J. E. Holman, T. J. P. Hubbard, R. Jackson,D. Kasperaviciute, M. Kayikci, L. Lahnstein,K. Lawson,S. E. A. Leigh, I. U. S. Leong,F. J. Lopez, F. Maleady-Crowe,J. Mason, E. M. McDonagh,L. Moutsianas,M. Mueller,N. Murugaesu,A. C. Need, C. A. Odhams,C. Patch, D. Perez-Gil,D. Polychronopoulos, J. Pullinger,T. Rahim,A. Rendon, P. Riesgo-Ferreiro,T. Rogers,M. Ryten,K. Savage, K. Sawant, R. H. Scott,A. Siddiq, A. Sieghart,D. Smedley,K. R. Smith,A. Sosinsky, W. Spooner, H. E. Stevens,A. Stuckey,R. Sultana, E. R. A. Thomas,S. R. Thompson, C. Tregidgo, A. Tucci,E. Walsh, S. A. Watters, M. J. Welland,E. Williams, K. Witkowska,S. M. Wood, M. Zarowiecki EUROPEAN JOURNAL OF HUMAN GENETICS（2020）
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