Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction

Journal:

Journal of Clinical Investigation

Published:

2026-04-21

DOI:

10.1172/jci195336

Affiliations:

33

Authors:

39

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Institutions	Authors	Share
Northwestern University (NU), United States of America (USA)	7.000000	0.18
UCL Queen Square Institute of Neurology, United Kingdom (UK)	3.000000	0.08
Mount Sinai Hospital (MSH), U of T, Canada	2.500000	0.06
National Research Centre (NRC), Egypt	2.333333	0.06
NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), United States of America (USA)	2.000000	0.05
UCL, United Kingdom (UK)	2.000000	0.05
Igenomix FZ LLC, United Arab Emirates	2.000000	0.05
National Institute of Scientific Research (INRS), Canada	1.500000	0.04
The Hospital for Sick Children (SickKids), U of T, Canada	1.500000	0.04
Birmingham Women's and Children's NHS Foundation Trust, United Kingdom (UK)	1.500000	0.04
SJD Barcelona Children's Hospital​ for Maternal and Child Health, BMA, Spain	1.500000	0.04
Sultan Qaboos University Hospital (SQUH), SQU, Oman	1.333333	0.03
Sultan Qaboos University (SQU), Oman	1.333333	0.03
GeneDx, United States of America (USA)	1.000000	0.03
Radboud University Medical Centre (Radboudumc), RU, Netherlands	1.000000	0.03
Centogene AG, Germany	1.000000	0.03
King Faisal Specialist Hospital and Research Centre (KFSH&RC), Saudi Arabia	1.000000	0.03
Bielefeld University, Germany	1.000000	0.03
IRCCS Istituto Giannina Gaslini, Italy	1.000000	0.03
Sant Joan de Déu Research Institute (IRSJD), Spain	0.833333	0.02
King's College Hospital NHS Foundation Trust, United Kingdom (UK)	0.500000	0.01
King's College London (KCL), United Kingdom (UK)	0.500000	0.01
Semmelweis University (SE), Hungary	0.500000	0.01
University of Montreal (UdeM), Canada	0.500000	0.01
ERN-RND, Spain, Spain	0.333333	0.01
Biomedical Research Networking Center on Rare Diseases (CIBERER), Spain	0.333333	0.01

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