Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking

Journal:

American Journal of Human Genetics

Published:

2026-02-04

DOI:

10.1016/j.ajhg.2026.01.008

Affiliations:

30

Authors:

43

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Institutions	Authors	Share
Telethon Institute of Genetics and Medicine (TIGEM), Italy	5.833333	0.14
University of Campania Luigi Vanvitelli, Italy	4.500000	0.10
Vision Institute, France	4.000000	0.09
University of Zurich (UZH), Switzerland	4.000000	0.09
Ege University, Turkey	3.000000	0.07
Nutrition - Genetics and Exposure to Environmental Risks (NGERE), France	3.000000	0.07
Diseases and Hormones of the Nervous System (DHNS), France	2.000000	0.05
Palestine Red Crescent Society Hospital, Palestinian territories	2.000000	0.05
Bethlehem University, Palestinian territories	2.000000	0.05
University of Naples Federico II (UNINA), Italy	1.833333	0.04
Prince Sultan Military Medical City, Saudi Arabia	1.000000	0.02
Agostino Gemelli University Polyclinic, Italy	1.000000	0.02
Catholic University of the Sacred Heart (UCSC), Italy	1.000000	0.02
Albany Medical Center, United States of America (USA)	1.000000	0.02
Clinic for Special Children, United States of America (USA)	1.000000	0.02
UCL Queen Square Institute of Neurology, United Kingdom (UK)	1.000000	0.02
Baystate Medical Center, Baystate Health, United States of America (USA)	1.000000	0.02
Laboratorio Internacional de Investigación sobre el Genoma Humano, Mexico	1.000000	0.02
Ospedale Santobono-Pausilipon, Italy	0.500000	0.01
Taibah University, Saudi Arabia	0.500000	0.01
King Khaled Eye Specialist Hospital (KKESH), Saudi Arabia	0.500000	0.01
King Fahad Specialist Hospital-Dammam (KFSH-D), Saudi Arabia	0.333333	0.01
Alfaisal University, Saudi Arabia	0.333333	0.01
Sehha Virtual Hospital, Saudi Arabia	0.333333	0.01
Scuola Superiore Meridionale (SSM), Italy	0.333333	0.01

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