Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Cornelis A. Albers(University of Cambridge), Dirk S. Paul(Wellcome Sanger Institute), Harald Schulze(Charité - Universitätsmedizin Berlin), Kathleen Freson(KU Leuven), Jonathan Stephens(University of Cambridge), Peter A. Smethurst(National Health Service), Jennifer D. Jolley(NHS Blood and Transplant), Ana Cvejic(University of Cambridge), Myrto Kostadima(European Bioinformatics Institute), Paul Bertone(European Bioinformatics Institute), Martijn H. Breuning(Leiden University Medical Center), Najet Debili(Inserm), Panos Deloukas(Wellcome Sanger Institute), Rémi Favier(Inserm), Janine Fiedler(Freie Universität Berlin), Catherine M. Hobbs(NHS Blood and Transplant), Ni Huang(Wellcome Sanger Institute), Matthew E. Hurles(Wellcome Sanger Institute), Graham Kiddle(University of Cambridge), Ingrid P.C. Krapels(Maastricht University), Paquita Nurden(Hôpital Xavier Arnozan), Claudia Ruivenkamp(Leiden University Medical Center), Jennifer G. Sambrook(NHS Blood and Transplant), Kenneth Smith(University of Bristol), Derek L. Stemple(Wellcome Sanger Institute), Gabriele Strauß(Charité - Universitätsmedizin Berlin), Chantal Thys(KU Leuven), Chris Van Geet(Universitair Ziekenhuis Leuven), Ruth Newbury‐Ecob(St Michael's Hospital), Willem H. Ouwehand(Wellcome Sanger Institute), Cédric Ghevaert(University of Cambridge)
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