Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder

Journal:

American Journal of Human Genetics

Published:

2026-03-26

DOI:

10.1016/j.ajhg.2026.03.002

Affiliations:

31

Authors:

41

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Institutions	Authors	Share
Newcastle University, United Kingdom (UK)	5.000000	0.12
The University of Tokyo (UTokyo), Japan	3.500000	0.09
Oklahoma Medical Research Foundation (OMRF), United States of America (USA)	3.500000	0.09
Oslo University Hospital (OUS), Norway	3.000000	0.07
Birmingham Women's and Children's NHS Foundation Trust, United Kingdom (UK)	3.000000	0.07
UCL Queen Square Institute of Neurology, United Kingdom (UK)	3.000000	0.07
Chapel Allerton Hospital, United Kingdom (UK)	2.000000	0.05
Leeds Teaching Hospitals NHS Trust (LTHT), United Kingdom (UK)	2.000000	0.05
University Hospitals of Leicester NHS Trust (UHL), United Kingdom (UK)	2.000000	0.05
Children's Hospital and the Institute of Child Health, Pakistan	2.000000	0.05
University of Michigan (U-M), United States of America (USA)	1.500000	0.04
University of Helsinki, Finland	1.500000	0.04
The Newcastle Upon Tyne Hospitals NHS Foundation Trust (NUTH), United Kingdom (UK)	1.500000	0.04
Institute of Integrative Biology of the Cell (I2BC), France	1.000000	0.02
University Hospital of North Norway (UNN), Norway	1.000000	0.02
University of Tromsø - The Arctic University of Norway (UiT), Norway	1.000000	0.02
Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, United Kingdom (UK)	1.000000	0.02
University of Cambridge, United Kingdom (UK)	1.000000	0.02
Zone de Contact Entre Organites et Stress Cellulaire, France	0.500000	0.01
P.D. Hinduja Hospital and Medical Research Center, India	0.500000	0.01
Bai Jerbai Wadia Hospital for Children, India	0.500000	0.01
WPI International Research Center for Neurointelligence (WPI-IRCN), UTokyo, Japan	0.500000	0.01
Northumbria University, United Kingdom (UK)	0.500000	0.01

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