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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.

Journal: American Journal of Human Genetics

Published: 2020-01-20

DOI: 10.1016/j.ajhg.2020.01.007

Affiliations: 23

Authors: 29

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Institutions Share
Royal Devon and Exeter NHS Foundation Trust, United Kingdom (UK) 0.17
Institute of Biomedical and Clinical Science, University of Exeter, United Kingdom (UK) 0.14
UCL Department of Clinical and Movement Neurosciences, United Kingdom (UK) 0.09
Biodonostia Health Research Institute (Biodonostia HRI), Spain 0.08
OMRF Aging and Metabolism Research Program, United States of America (USA) 0.07
Department of Genetics and Metabolic Diseases, HUJI, Israel 0.07
South West Thames Regional Genetics Service, United Kingdom (UK) 0.05
Department of Molecular and Human Genetics, BCM, United States of America (USA) 0.04
Aberdeen Royal Infirmary, NHS Grampian, United Kingdom (UK) 0.03
University Hospitals Bristol NHS Foundation Trust (UHBristol), United Kingdom (UK) 0.03
Department of Clinical Genetics, UHBristol, United Kingdom (UK) 0.03
Children's Hospital of Michigan, DMC, United States of America (USA) 0.03
Department of Pediatrics, Wayne State University, United States of America (USA) 0.03
St George's, University of London (SGUL), United Kingdom (UK) 0.02
Translational and Clinical Research Institute, Newcastle University, United Kingdom (UK) 0.02
Wellcome Trust Centre for Mitochondrial Research, Newcastle University, United Kingdom (UK) 0.02
MRC Centre for Neuromuscular Diseases (London), United Kingdom (UK) 0.01
Biomedical Research Networking Center on Neurodegenerative Diseases (CIBERNED), Spain 0.01
National Hospital for Neurology and Neurosurgery (NHNN), UCLH, United Kingdom (UK) 0.01
Texas Children's Hospital, BCM, United States of America (USA) 0.01
Department of Pediatrics, BCM, United States of America (USA) 0.01
Human Genome Sequencing Center (HGSC), BCM, United States of America (USA) 0.01
Ikerbasque - Basque Foundation for Science, Spain 0

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