BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

Journal:
American Journal of Human Genetics
Published:
DOI:
10.1016/j.ajhg.2026.02.024
Affiliations:
29
Authors:
39
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Institutions Authors Share
Children's Hospital of Philadelphia (CHOP), United States of America (USA)
9.666667
 0.25
NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), United States of America (USA)
4.000000
 0.10
Centogene AG, Germany
4.000000
 0.10
Erasmus University Medical Center (Erasmus MC), Netherlands
3.000000
 0.08
Unidade Local de Saúde Santa Maria (ULSSM), Portugal
2.000000
 0.05
İntergen Genetic Diagnosis Center, Turkey
2.000000
 0.05
UCL Queen Square Institute of Neurology, United Kingdom (UK)
2.000000
 0.05
Mashhad University of Medical Sciences (MUMS), Iran
1.333333
 0.03
University of Pennsylvania Health System (UPHS), United States of America (USA)
1.333333
 0.03
Health Sciences Center (HSC), Utah, United States of America (USA)
1.000000
 0.03
Illumina, United States of America (USA)
1.000000
 0.03
Johns Hopkins Aramco Healthcare Company (JHAH), Saudi Arabia
1.000000
 0.03
DETAGEN Genetic Disease Evaluation Center, Turkey
1.000000
 0.03
Al-Sayyab Teaching Hospital, Iraq
1.000000
 0.03
University of Basrah, Iraq
1.000000
 0.03
The University of Queensland (UQ), Australia
1.000000
 0.03
Genetic Foundation of Khorasan Razavi, Iran
0.666667
 0.02
Valiasr Hospital, Iran
0.500000
 0.01
Birjand University of Medical Sciences (BUMS), Iran
0.500000
 0.01
Murdoch Children's Research Institute (MCRI), Australia
0.333333
 0.01
Garvan Institute of Medical Research, Australia
0.333333
 0.01
University of New South Wales (UNSW Sydney), Australia
0.333333
 0.01
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