Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder

Journal:

American Journal of Human Genetics

Published:

2026-06-08

DOI:

10.1016/j.ajhg.2026.05.008

Affiliations:

26

Authors:

33

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Institutions	Authors	Share
Baylor College of Medicine (BCM), United States of America (USA)	8.500000	0.26
University of Malaya Medical Centre (UMMC), Malaysia	3.333333	0.10
Texas Children's Hospital, BCM, United States of America (USA)	3.000000	0.09
Duke-NUS Medical School, Singapore	2.333333	0.07
KK Women's and Children's Hospital (KKH), Singapore	2.083333	0.06
Nanyang Technological University (NTU), Singapore	2.000000	0.06
Baylor Genetics, United States of America (USA)	1.500000	0.05
Ludwig Maximilians University of Munich (LMU), Germany	1.500000	0.05
The German Center for Lung Research (DZL), Germany	1.500000	0.05
SingHealth Duke-NUS Institute of Precision Medicine (PRISM), Singapore	1.500000	0.05
University of Malaya (UM), Malaysia	1.333333	0.04
SingHealth Duke-NUS Disease Centres, Singapore	0.833333	0.03
The Chinese University of Hong Kong (CUHK), China	0.666667	0.02
Hospital Santa Maria, Portugal	0.500000	0.02
University of Lisbon (ULISBOA), Portugal	0.500000	0.02
Vall d'Hebron University Hospital (HUVH), ICS, Spain	0.500000	0.02
Autonomous University of Barcelona (UAB), Spain	0.500000	0.02
The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, China	0.333333	0.01
Universiti Tunku Abdul Rahman, Malaysia	0.333333	0.01
Genome Institute of Singapore (GIS), A*STAR, Singapore	0.250000	0.01