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Paper Details

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Am J Hum Genet
36
2021
5' UTR bases, 5' UTRs, 5' untranslated regions, DD, DDD, Developmental Disorders, MEF2C, Non-coding region variants, copy, developmental disorder, non-coding region variants, non-coding regions, non-coding variants, protein-coding regions, protein-coding variants, rare disease
Author NameAffiliation
Caroline F WrightInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon & Exeter Hospital
Kaitlin E SamochaWellcome Sanger Institute
Konrad J KarczewskiMassachusetts General Hospital, Broad Institute of MIT and Harvard
Konrad J KarczewskiMassachusetts General Hospital, Broad Institute of MIT and Harvard
Joannella MoralesEuropean Bioinformatics Institute (EMBL-EBI)
Siddharth BankaSt Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, University of Manchester
Sally Ann LynchUniversity College Dublin, and Clinical Genetics, Temple Street Children's University Hospital
Jenny C TaylorNational Institute for Health Research Oxford Biomedical Research Centre, University of Oxford
Helen V FirthWellcome Sanger Institute, Cambridge University Hospitals NHS Foundation Trust
Matthew E HurlesWellcome Sanger Institute
Matthew E HurlesWellcome Sanger Institute
Paul J R BartonNational Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, UK Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust
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