Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

Journal:

American Journal of Human Genetics

Published:

2025-09-22

DOI:

10.1016/j.ajhg.2025.09.001

Affiliations:

27

Authors:

45

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Institutions	Authors	Share
AP-HP Pitié-Salpêtrière Hospital, France	9.500000	0.21
Brain and Spine Institute (ICM), France	5.500000	0.12
University Hospital Nantes (CHU de Nantes), France	4.000000	0.09
Sheffield Children's NHS Foundation Trust, United Kingdom (UK)	4.000000	0.09
Danish Epilepsy Centre, Denmark	2.500000	0.06
Robert Debré University Hospital, France	2.000000	0.04
University of Zurich (UZH), Switzerland	2.000000	0.04
Birmingham Women's and Children's NHS Foundation Trust, United Kingdom (UK)	2.000000	0.04
University of Tübingen (Uni Tübingen), Germany	1.500000	0.03
Centre de Référence Anomalies du Développement CLAD-Ouest, France	1.000000	0.02
Genomic and Personalized Medicine in Cancer and Neurological disorders, France	1.000000	0.02
Fundació Institut d'Investigació Sanitària Illes Balears (IdISBa), Spain	1.000000	0.02
Hospital Universitari Son Espases, Spain	1.000000	0.02
Children’s Health Ireland (CHI), Ireland	1.000000	0.02
University Hospital Magdeburg (UKMD), OVGU, Germany	1.000000	0.02
Guy's and St Thomas' NHS Foundation Trust, United Kingdom (UK)	1.000000	0.02
GenoSplice Technology SARL, France	1.000000	0.02
GCS SeqOIA, France	1.000000	0.02
Alberta Children's Hospital (ACH), AHS, Canada	0.500000	0.01
University of Calgary (U of C), Canada	0.500000	0.01
Africa-Europe Cluster of Research Excellence - Genomics for Health in Africa (CoRE-GHA), International	0.500000	0.01
University of Southern Denmark (SDU), Denmark	0.500000	0.01
KEMRI-Wellcome Trust Research Programme CGMRC, Kenya	0.333333	0.01
Kenya Campus, AKU, Kenya	0.333333	0.01
University of Oxford, United Kingdom (UK)	0.333333	0.01

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