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(Radboud University Nijmegen), Cédric Ghevaert(NHS Blood and Transplant), Rémi Favier(Inserm), Catherine M. Hobbs(NHS Blood and Transplant), Willem H. Ouwehand(NHS Blood and Transplant), Harald Schulze, Janine Fiedler(Freie Universität Berlin), Derek L. Stemple(Wellcome Sanger Institute), Dirk S. Paul(AstraZeneca (United Kingdom)), Paul Bertone(European Bioinformatics Institute), Myrto Kostadima(National Health Service), Ana Cvejic(University of Copenhagen), Gabriele Strauß, Paquita Nurden(Electrophysiology and Heart Modeling Institute), Chris Van Geet(KU Leuven), Jonathan Stephens(NHS Blood and Transplant), Kathleen Freson(KU Leuven), Matthew E. Hurles(Wellcome Sanger Institute), Graham Kiddle(University of Cambridge), Ruth Newbury‐Ecob(University Hospitals Bristol NHS Foundation Trust), Ni Huang(Shanghai Jiao Tong University), Panos Deloukas(Queen Mary University of London), Claudia Ruivenkamp(The Netherlands Cancer Institute), Ingrid P.C. Krapels(Maastricht University Medical Centre), Kenneth Smith(University of Bristol), Jennifer G. Sambrook(NHS Blood and Transplant), Jennifer D. Jolley(University of Cambridge), Najet Debili(Inserm), Peter A. Smethurst(National Health Service), Martijn H. Breuning(Leiden University Medical Center), Chantal Thys(KU Leuven)
Cited by 426
Related Papers
Initial sequencing and analysis of the human genome
|Nature|2001|24.6k
A global reference for human genetic variation
|Nature|2015|19.9k
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
|Nature|2007|9.6k
Cerebral organoids model human brain development and microcephaly
|Nature|2013|5.4k