Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets
Ben Weisburd(MACOM (United States)), Anne O’Donnell‐Luria(Broad Institute), Rohan Manoj, Heidi L. Rehm(Unknown), Ana Töpf(Newcastle upon Tyne Hospitals NHS Foundation Trust), Katrin Õunap(Tartu University Hospital), Volker Straub(Newcastle upon Tyne Hospitals NHS Foundation Trust), Atchayaram Nalini(National Institute of Mental Health and Neurosciences), Magda Horáková(Masaryk University), Nigel G. Laing(Harry Perkins Institute of Medical Research), Ikeoluwa Osei‐Owusu(MACOM (United States)), Rita Horváth(University of Cambridge), Hamish S. Scott(South Australia Pathology), Lynn Pais(MACOM (United States)), Stojan Perić(University of Belgrade), Melanie O’Leary(MACOM (United States)), Veronika Karcagi(Genetic Resources Center), Kiran Polavarapu(University of Ottawa), Seth A. Stafki(University of Minnesota), Carsten G. Bönnemann(National Institute of Neurological Disorders and Stroke), Peter B. Kang(Boston Children's Hospital), Tiia Reimand(Tartu University Hospital), Hanns Lochmüller(University of Ottawa), Göknur Haliloğlu(Hacettepe University Hospital), Anna Łusakowska(Medical University of Warsaw), Gianina Ravenscroft(Harry Perkins Institute of Medical Research), Audrey L. Daugherty(University of Minnesota), Emily O’Heir(MACOM (United States)), Rakshya Sharma(Avera McKennan Hospital & University Health Center), Bjarne Udd(Folkhälsans Forskningscentrum), Christina Austin‐Tse(Broad Institute), Nagia Fahmy(Ain Shams University), Vijay S Ganesh(Broad Institute), Villem Pata(Tartu University Hospital), Grace Tiao(Broad Institute), Sandra Donkervoort(National Institute of Neurological Disorders and Stroke), Chiara Folland(The University of Western Australia), Özlem Hergüner(Cukurova University), Sander Pajusalu(MACOM (United States))
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