Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

Journal:

American Journal of Human Genetics

Published:

2025-10-22

DOI:

10.1016/j.ajhg.2025.09.015

Affiliations:

38

Authors:

45

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Institutions	Authors	Share
Bellvitge Biomedical Research Institute (IDIBELL), Spain	4.583333	0.10
Biomedical Research Networking Center on Rare Diseases (CIBERER), Spain	4.583333	0.10
UCL Queen Square Institute of Neurology, United Kingdom (UK)	3.000000	0.07
UPMC Children's Hospital of Pittsburgh (CHP), United States of America (USA)	2.000000	0.04
Josep Carreras Leukaemia Research Institute (IJC), Spain	2.000000	0.04
University Medical Center Göttingen (UMG), Germany	2.000000	0.04
International Islamic University (IIU), Pakistan	2.000000	0.04
Columbia University Irving Medical Center (CUIMC), CU, United States of America (USA)	2.000000	0.04
Tartu University Hospital, UT, Estonia	2.000000	0.04
Istanbul University, Turkey	2.000000	0.04
Biodonostia Health Research Institute (Biodonostia HRI), Spain	1.833333	0.04
Institute of Advanced Chemistry of Catalonia (IQAC), CSIC, Spain	1.000000	0.02
Biomedical Research Networking Center in Hepatic and Digestive Diseases (CIBEREHD), Spain	1.000000	0.02
Azienda Ospedaliera Papa Giovanni XXIII, Italy	1.000000	0.02
University of Padova (UNIPD), Italy	1.000000	0.02
Golestan University of Medical Sciences (GOUMS), Iran	1.000000	0.02
City St George's, University of London, United Kingdom (UK)	1.000000	0.02
University of Helsinki, Finland	1.000000	0.02
Wellbeing Services County of Ostrobothnia, Finland	1.000000	0.02
University of Tartu (UT), Estonia	1.000000	0.02
Medizinisches Versorgungszentrum Dr. Eberhard und Partner Dortmund (ÜBAG), Germany	1.000000	0.02
Universitätsklinikum Leipzig, Germany	1.000000	0.02
Klinikum Oldenburg, Germany	1.000000	0.02
University of the Basque Country (UPV/EHU), Spain	0.833333	0.02
Bellvitge University Hospital (HUB), ICS, Spain	0.500000	0.01
University of Barcelona (UB), Spain	0.500000	0.01
Boston Children's Hospital (BCH), United States of America (USA)	0.500000	0.01
Harvard Medical School (HMS), United States of America (USA)	0.500000	0.01
Biomedical Research Networking Center on Neurodegenerative Diseases (CIBERNED), Spain	0.333333	0.01
Kårkulla Joint Authority, Finland	0.333333	0.01
Catalan Institution for Research and Advanced Studies (ICREA), Spain	0.333333	0.01
Tampere University, Finland	0.333333	0.01
FVR – Finnish Vaccine Research, Finland	0.333333	0.01
Germans Trias i Pujol University Hospital (HUGTP), ICS, Spain	0.250000	0.01
Autonomous University of Barcelona (UAB), Spain	0.250000	0.01
Ikerbasque - Basque Foundation for Science, Spain	0.000000	0.00

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