De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Journal: American Journal of Human Genetics

Published: 2020-08-06

DOI: 10.1016/j.ajhg.2020.06.016

Affiliations: 57

Authors: 93

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Institutions Share
UCL, United Kingdom (UK) 0.14
GeneDx Inc., United States of America (USA) 0.05
Washington University in St. Louis (WUSTL), United States of America (USA) 0.04
Queen's University, Canada 0.04
Génétique Moléculaire, Génomique, Microbiologie (GMGM), France 0.04
University of Cambridge, United Kingdom (UK) 0.03
Copenhagen University Hospital (CUH), Denmark 0.03
Khyber Medical University (KMU), Pakistan 0.03
Dubowitz Neuromuscular Centre (DNC), United Kingdom (UK) 0.03
Johns Hopkins University (JHU), United States of America (USA) 0.03
Institute of Genetics and Molecular and Cellular Biology (IGBMC), France 0.03
University of Geneva (UNIGE), Switzerland 0.02
The Hospital for Sick Children (SickKids), U of T, Canada 0.02
Bezmialem Vakif University, Turkey 0.02
University Medical Center Groningen (UMCG), RUG, Netherlands 0.02
Children Hospital and Institute of Child Health, Multan, Pakistan 0.02
Johns Hopkins Children’s Center, United States of America (USA) 0.02
University Hospital Duesseldorf (UKD), Germany 0.02
University Hospital Tübingen (UKT), Uni Tübingen, Germany 0.02
Amsterdam UMC, Netherlands 0.02
Amsterdam Neuroscience, Netherlands 0.02
Rady Children's Hospital-San Diego, United States of America (USA) 0.02
University of California, San Diego (UC San Diego), United States of America (USA) 0.02
University of Toronto (U of T), Canada 0.01
Donders Institute for Brain, Cognition and Behaviour, Netherlands 0.01
Radboud University Medical Centre (Radboudumc), RU, Netherlands 0.01
Saint Louis University (SLU), United States of America (USA) 0.01
Maastricht University Medical Center+ (Maastricht UMC+), Netherlands 0.01
St George's, University of London (SGUL), United Kingdom (UK) 0.01
West Virginia University (WVU), United States of America (USA) 0.01
Great Ormond Street Hospital for Children (GOSH), United Kingdom (UK) 0.01
University of Vermont (UVM), United States of America (USA) 0.01
Allama Iqbal Medical College (AIMC), Pakistan 0.01
International Islamic University (IIU), Pakistan 0.01
Tripoli Children's Hospital, Libya 0.01
SSM Cardinal Glennon Children's Medical Center, United States of America (USA) 0.01
Institute for Research and Innovation in Biomedicine (IRIB), France 0.01
Biomedical Centre Cardinal-Wendel, Germany 0.01
Praxis für Humangenetik Tübingen, Germany 0.01
CeGaT GmbH, Germany 0.01
Swiss Institute of Bioinformatics (SIB), Switzerland 0.01
Medical Spectrum Twente, Netherlands 0.01
Centre for Addiction and Mental Health (CAMH), U of T, Canada 0.01
Geneva University Hospitals (HUG), Switzerland 0.01
Institute of Molecular and Clinical Ophthalmology Basel (IOB), Switzerland 0.01
University Hospital of Lausanne (CHUV), UNIL, Switzerland 0.01
Swiss Institute of Genomic Medicine (Medigenome), Switzerland 0