De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Yuyang Chen(Centre for Human Genetics), Seema R. Lalani(Baylor College of Medicine), Ruebena Dawes(Centre for Human Genetics), Kimberly Ezell(Vanderbilt University Medical Center), Tobias B. Haack(Technical University of Munich), Susan Walker(Genomics England), Chloe A Cunningham(The University of Melbourne), Jenny Lord(University of Sheffield), Petr Danecek(Wellcome Sanger Institute), Elston N. D’Souza(Centre for Human Genetics), Hyung Chul Kim(Centre for Human Genetics), Anjali Gupta Hinch(Centre for Human Genetics), Precilla D’Souza(National Human Genome Research Institute), Lindsay C. Burrage(Baylor College of Medicine), Kimberly A. Chapman(Children's National), Natasha J. Brown(New South Wales Department of Health), Ishita Bhatnagar(Oxford University Hospitals NHS Trust), Kerith‐Rae Dias(Queen Mary University of London), Madhura Bakshi(Liverpool Hospital), David R. Adams(University of Kentucky), Gabrielle Lemire(Broad Institute), David Coman(Griffith University), Alison G. Compton(Royal Children's Hospital), Frances Elmslie(St George’s University Hospitals NHS Foundation Trust), Emmanuèle C. Délot(Children's National), Erwan Delage(Wellcome Sanger Institute), Anne Goriely(University of Oxford), Lyndon Gallacher(The University of Queensland), Katherine Lachlan(Salisbury District Hospital), Jamie M. Ellingford(University of Manchester), Alicia Ljungdahl(University of California, San Francisco), Matthew E. Hurles(Wellcome Sanger Institute), Jamie L. Fraser(Children's National), Alexandra C Martin-Geary(Centre for Human Genetics), Seth Berger(Children's National), Shan Dong(Peking University), Lisa Ewans(Garvan Institute of Medical Research), Sarah L. Stenton(Broad Institute), Casie A. Genetti(Boston Children's Hospital), Vijay S Ganesh(Broad Institute), Jonathan A. Bernstein(Stanford Medicine), Kirsten Allan(Victorian Clinical Genetics Services), Care-Anne Evans(Prince of Wales Hospital), Jialan Ma(Broad Institute), Ellen Roy Elias(Children's Hospital Colorado), Erin E. Baldwin(University of Utah), Ed Blair(Oxford University Hospitals NHS Trust), Christina Grant(Children's National), Alma Kuechler(Essen University Hospital), Jenny Higgs(University of Liverpool)
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