Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Journal:
Nature Genetics
Published:
Affiliations:
159
Authors:
264
Institutions Authors Share
AP-HP Pitié-Salpêtrière Hospital, France
16.166667
16.166667
0.06
GCS SeqOIA, France
14.116667
14.116667
0.05
GCS Auragen, France
14.000000
14.000000
0.05
Genomic and Personalized Medicine in Cancer and Neurological disorders, France
10.000000
10.000000
0.04
Maladies Rares du Developpement Embryonnaire et du Metabolisme : du Phénotype au Génotype et à la Fonction (RADEME), France
10.000000
10.000000
0.04
Essen University Hospital, Germany
9.833333
0.04
Robert Debré University Hospital, France
8.000000
0.03
University Hospital Nantes (CHU de Nantes), France
7.666667
0.03
CHU de Bordeaux, France
7.166667
0.03
Universitätsklinikum Leipzig, Germany
7.000000
0.03
Hôpital Necker-Enfants Malades, France
4.833333
0.02
Imagine Institute, France
4.833333
0.02
Hôpital Purpan, CHU-Toulouse, France
4.500000
0.02
University Medical Center Schleswig-Holstein - Campus Lübeck (UKSH Lübeck), Germany
4.500000
0.02
University Hospitals of Strasbourg (HUS), France
4.000000
0.02
Children's Hospital of Eastern Ontario (CHEO), Canada
4.000000
0.02
University Hospital of Erlangen, FAU, Germany
4.000000
0.02
Brain and Spine Institute (ICM), France
3.833333
0.01
Institute of Genetics and Molecular and Cellular Biology (IGBMC), France
3.833333
0.01
Genetics of Development Disorders Team (GAD), France
3.583333
0.01
Fédération Hospitalo Universitaire Génétique Omiques Médecine et Société (FHU GenOMedS), France
3.500000
0.01
University of Calgary (U of C), Canada
3.500000
0.01
Boston Children's Hospital (BCH), United States of America (USA)
3.250000
0.01
Institute of Research on Cancer and Aging in Nice (IRCAN), France
3.000000
0.01
CHU Caen, France
3.000000
0.01
Dijon University Hospital, France
2.500000
0.01
CHRU Brest, France
2.333333
0.01
Hospital Timone, France
2.333333
0.01
Institute for Advanced Biosciences (IAB), France
2.333333
0.01
Broad Institute of MIT and Harvard, United States of America (USA)
2.166667
0.01
Centre Hospitalier Universitaire de La Réunion (CHU de La Réunion), France
2.000000
0.01
CHRU de Besançon, France
2.000000
0.01
Children's Hospital at Montefiore (CHAM), United States of America (USA)
2.000000
0.01
University of Tübingen (Uni Tübingen), Germany
2.000000
0.01
Centre Hospitalier du Mans, France
2.000000
0.01
Hôpital Armand-Trousseau, France
2.000000
0.01
Centre Hospitalier Métropole Savoie, France
2.000000
0.01
University Hospital Aachen (UKA), RWTH Aachen, Germany
2.000000
0.01
CHU de la Guadeloupe, France
2.000000
0.01
Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), France
2.000000
0.01
CHU de Reims, France
1.833333
0.01
NeuroDiderot, France
1.700000
0.01
Laboratory of Rare Diseases, Metabolism and Genetics (MRGM), France
1.666667
0.01
Lyon University Hospital (HCL), France
1.666667
0.01
Génétique Moléculaire, Génomique, Microbiologie (GMGM), France
1.583333
0.01
Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement (FHU-TRANSLAD), France
1.583333
0.01
Genomic and Immunotherapy Medical Institute (GIMI), France
1.583333
0.01
Centre Hospitalier Universitaire d'Angers (CHU d'Angers), France
1.500000
0.01
Murdoch Children's Research Institute (MCRI), Australia
1.500000
0.01
CHU Clermont-Ferrand, France
1.500000
0.01
New York Genome Center (NYGC), United States of America (USA)
1.500000
0.01
Alberta Children's Hospital Research Institute (ACHRI), Canada
1.500000
0.01
Children's Hospital at Westmead (CHW), USYD, Australia
1.500000
0.01
Institut du Thorax (IdT), France
1.333333
0.01
Alps Grenoble University Hospital (CHU Grenoble Alpes), France
1.333333
0.01
Imaging and Brain (iBrain), France
1.333333
0.01
University Hospital of Munich (KUM), LMU, Germany
1.333333
0.01
Australian Centre for Population Genomics, Australia
1.166667
0.00
Institute of Physics Rennes (IPR), France
1.083333
0.00
MEDICOVER GmbH, Germany
1.000000
0.00
Erasmus University Medical Center (Erasmus MC), Netherlands
1.000000
0.00
Centre Hospitalier de Valence, France
1.000000
0.00
Centre Hospitalier Régional Universitaire de Nîmes (CHU de Nîmes), France
1.000000
0.00
The Hospital for Sick Children (SickKids), U of T, Canada
1.000000
0.00
CHU Limoges, France
1.000000
0.00
Sozialpädiatrischen Zentrum Konstanz (SPZ Konstanz), Germany
1.000000
0.00
CHU Amiens-Picardie, France
1.000000
0.00
Nutrition - Genetics and Exposure to Environmental Risks (NGERE), France
1.000000
0.00
Hôpital Pellegrin, France
1.000000
0.00
CHU Saint Etienne, France
1.000000
0.00
Salzburger Landeskliniken (SALK), Austria
1.000000
0.00
National Institute for Health and Medical Research (INSERM), France
1.000000
0.00
University Hospital Saint-Luc, Belgium
1.000000
0.00
Hôpital Femme Mère Enfant (HFME), HCL, France
1.000000
0.00
University Hospital Magdeburg (UKMD), OVGU, Germany
1.000000
0.00
Institute for Neurosciences of Montpellier (INM), France
1.000000
0.00
Epilepsy Center Kleinwachau, Germany
1.000000
0.00
EMBL - Grenoble, France
1.000000
0.00
University of Oxford, United Kingdom (UK)
0.833333
0.00
Oxford Wellcome Trust Centre for Human Genetics, United Kingdom (UK)
0.833333
0.00
Assistance Publique-Hôpitaux de Paris (AP-HP), France
0.833333
0.00
Bellvitge Biomedical Research Institute (IDIBELL), Spain
0.833333
0.00
Biomedical Research Networking Center on Rare Diseases (CIBERER), Spain
0.833333
0.00
Laboratoire de Génétique Médicale (LGM), France
0.833333
0.00
The University of Melbourne (UniMelb), Australia
0.750000
0.00
Institut NeuroMyoGène (INMG), France
0.666667
0.00
Hôpital Civil, HUS, France
0.666667
0.00
University of New South Wales (UNSW Sydney), Australia
0.583333
0.00
Harvard Medical School (HMS), United States of America (USA)
0.583333
0.00
Hôpital Trousseau, France
0.500000
0.00
Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), France
0.500000
0.00
Montpellier University Hospital, UM, France
0.500000
0.00
Hunter Genetics, Australia
0.500000
0.00
The University of Newcastle (UON), Australia
0.500000
0.00
University of Lyon, France
0.500000
0.00
University of Oldenburg, Germany
0.500000
0.00
Columbia University Irving Medical Center (CUIMC), CU, United States of America (USA)
0.500000
0.00
National Centre for Genomic Analysis (CNAG), CRG BIST, Spain
0.500000
0.00
University of Barcelona (UB), Spain
0.500000
0.00
The University of Sydney (USYD), Australia
0.500000
0.00
University of Tartu (UT), Estonia
0.500000
0.00
Tartu University Hospital, UT, Estonia
0.500000
0.00
Centre Hospitalier Régional Metz-Thionville, France
0.500000
0.00
Autonomous University of Barcelona (UAB), Spain
0.500000
0.00
Germans Trias i Pujol University Hospital (HUGTP), ICS, Spain
0.500000
0.00
Witten/Herdecke University (UW/H), Germany
0.500000
0.00
AMEOS Klinikum St. Clemens Oberhausen, Germany
0.500000
0.00
McMaster Children's Hospital, HHS, Canada
0.500000
0.00
McMaster University, Canada
0.500000
0.00
Rouen University Hospital-Charles Nicolle (CHU de Rouen), France
0.500000
0.00
Génétique, Génomique Fonctionnelle et Biotechnologies - Technosciences, France
0.333333
0.00
Marseille Medical Genetics Center (MMG), France
0.333333
0.00
Centre Hospitalier Régional Universitaire de TOURS (CHRU de Tours), France
0.333333
0.00
University of Monastir (UM), Tunisia
0.333333
0.00
F. Hached University Teaching Hospital, Tunisia
0.333333
0.00
Bicêtre Hospital, France
0.333333
0.00
University of Paris-Saclay, France
0.333333
0.00
Catalan Institution for Research and Advanced Studies (ICREA), Spain
0.333333
0.00
TUM University Hospital Klinikum rechts der Isar (MRI), Germany
0.333333
0.00
Helmholtz Zentrum München - German Research Center for Environmental Health (HMGU), Germany
0.333333
0.00
Massachusetts General Hospital (MGH), United States of America (USA)
0.333333
0.00
Jean Verdier Hospital, France
0.200000
0.00
Hôpitaux Universitaires Paris Seine-Saint-Denis (GHU 93), France
0.200000
0.00
Université Sorbonne Paris-Nord, France
0.200000
0.00