PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

Journal:

Journal of Clinical Investigation

Published:

2025-09-18

DOI:

10.1172/jci182100

Affiliations:

74

Authors:

95

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Institutions	Authors	Share
Genetics of Development Disorders Team (GAD), France	13.666667 13.666667	0.14
London Health Sciences Centre (LHSC), Canada	4.500000	0.05
Donders Institute for Brain, Cognition and Behaviour, Netherlands	4.000000	0.04
Rambam Health Care Campus (RambamHCC), IIT, Israel	4.000000	0.04
Radboud University Medical Centre (Radboudumc), RU, Netherlands	3.000000	0.03
GCS Auragen, France	2.666667	0.03
Imagine Institute, France	2.500000	0.03
Erasmus University Medical Center (Erasmus MC), Netherlands	2.500000	0.03
Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement (FHU-TRANSLAD), France	2.500000	0.03
University of Pisa (UNIPI), Italy	2.000000	0.02
University Medical Center Utrecht (UMC Utrecht), Netherlands	2.000000	0.02
Amsterdam UMC, Netherlands	2.000000	0.02
GeneDx, United States of America (USA)	2.000000	0.02
HudsonAlpha Institute for Biotechnology, United States of America (USA)	2.000000	0.02
Baylor College of Medicine (BCM), United States of America (USA)	2.000000	0.02
OSU Department of Pediatrics (Nationwide Children's Hospital), United States of America (USA)	2.000000	0.02
Universitätsklinikum Leipzig, Germany	2.000000	0.02
IRCCS Bambino Gesù Children's Hospital, Italy	2.000000	0.02
The Hospital for Sick Children (SickKids), U of T, Canada	2.000000	0.02
Western University (UWO), Canada	1.500000	0.02
University of Zurich (UZH), Switzerland	1.500000	0.02
University Hospital Zurich (UHZ), Switzerland	1.500000	0.02
CHU Clermont-Ferrand, France	1.500000	0.02
HUS New Children's Hospital, Finland	1.200000	0.01
Karolinska Institute (KI), Sweden	1.200000	0.01
Hôpital Necker-Enfants Malades, France	1.000000	0.01
Institut Pluridisciplinaire Hubert Curien (IPHC), France	1.000000	0.01
Proteomics French Infrastructure (ProFI), France	1.000000	0.01
Radboudumc Amalia Kinderziekenhuis, Netherlands	1.000000	0.01
MedStar Georgetown University Hospital, United States of America (USA)	1.000000	0.01
Washington University in St. Louis (WUSTL), United States of America (USA)	1.000000	0.01
The University of Alabama at Birmingham (UAB), United States of America (USA)	1.000000	0.01
The Ohio State University (OSU), United States of America (USA)	1.000000	0.01
Caris Life Sciences, United States of America (USA)	1.000000	0.01
University Hospital Duesseldorf (UKD), Germany	1.000000	0.01
University of Otago, New Zealand	1.000000	0.01
CH Chalon sur Saône, France	1.000000	0.01
Murdoch Children's Research Institute (MCRI), Australia	1.000000	0.01
The University of Melbourne (UniMelb), Australia	1.000000	0.01
Hôpital Purpan, CHU-Toulouse, France	1.000000	0.01
UCLA Health, United States of America (USA)	1.000000	0.01
Pompeu Fabra University (UPF), Spain	0.833333	0.01
Biomedical Research Networking Center on Rare Diseases (CIBERER), Spain	0.833333	0.01
Karolinska University Hospital, Sweden	0.700000	0.01
University of Helsinki, Finland	0.700000	0.01
The Royal Children's Hospital Melbourne (RCH), Australia	0.666667	0.01
Centre Hospitalier Universitaire d'Angers (CHU d'Angers), France	0.500000	0.01
Amphia Hospital, Netherlands	0.500000	0.01
Rady Children's Hospital-San Diego, United States of America (USA)	0.500000	0.01
University of California, San Diego (UC San Diego), United States of America (USA)	0.500000	0.01
The Wellington Hospital, New Zealand	0.500000	0.01
Health New Zealand, New Zealand	0.500000	0.01
Dijon University Hospital, France	0.500000	0.01
University of Burgundy Europe, France	0.500000	0.01
Queensland Children's Hospital (QCH), CHQ, Australia	0.500000	0.01
The University of Queensland (UQ), Australia	0.500000	0.01
CHU de Poitiers, France	0.500000	0.01
Folkhälsan Research Center, Finland	0.450000	0.00
Austin Health, Australia	0.333333	0.00
Alps Grenoble University Hospital (CHU Grenoble Alpes), France	0.333333	0.00
Institute for Advanced Biosciences (IAB), France	0.333333	0.00
Hospital del Mar Medical Research Institute (IMIM), Spain	0.333333	0.00
HUS Helsinki University Hospital, Finland	0.250000	0.00

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