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

Sock Hoai Chan, Audra N. Iness, Jill A. Rosenfeld, Mir Reza Bekheirnia, Lindsay C. Burrage, Matthew Hoi Kin Chau, Chaerish Eint Myet Chae Htoo, Eric C. Kao, Shamika Ketkar, Wan Wan Lim, Xi Luo, Rifhan Mazlan, Elizabeth Mizerik, Kein Seong Mun, Kalyani R. Patel, Lorraine Potocki, Christina K. Rapp, Xavier Roca, Ana Saianda, Ignacio Iglesias-Serrano, Everlyn C. Siew, Donald Yuhui Sim, David R. Spielberg, Sok-Kun Tae, Jing Xian Teo, Julian Warfsmann, Fan Xia, Saumya S. Jamuar, Ee Shien Tan, Matthias Griese, Weng Khong Lim, Meow-Keong Thong, Keren Machol

Open source

DOI: 10.1016/j.ajhg.2026.05.008
Published: 2026-07
Container: The American Journal of Human Genetics
Publisher: Elsevier BV
Open access: unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

supportingDOI registered: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
supportingDOI resolves: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
supportingMetadata completeness: All 6 scored descriptive metadata groups are present. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2026.05.008,
  title = {Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder},
  author = {Sock Hoai Chan and Audra N. Iness and Jill A. Rosenfeld and Mir Reza Bekheirnia and Lindsay C. Burrage and Matthew Hoi Kin Chau and Chaerish Eint Myet Chae Htoo and Eric C. Kao and Shamika Ketkar and Wan Wan Lim and Xi Luo and Rifhan Mazlan and Elizabeth Mizerik and Kein Seong Mun and Kalyani R. Patel and Lorraine Potocki and Christina K. Rapp and Xavier Roca and Ana Saianda and Ignacio Iglesias-Serrano and Everlyn C. Siew and Donald Yuhui Sim and David R. Spielberg and Sok-Kun Tae and Jing Xian Teo and Julian Warfsmann and Fan Xia and Saumya S. Jamuar and Ee Shien Tan and Matthias Griese and Weng Khong Lim and Meow-Keong Thong and Keren Machol},
  year = {2026},
  journal = {The American Journal of Human Genetics},
  doi = {10.1016/j.ajhg.2026.05.008},
  url = {https://doi.org/10.1016/j.ajhg.2026.05.008}
}

RIS

TY  - JOUR
TI  - Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder
AU  - Sock Hoai Chan
AU  - Audra N. Iness
AU  - Jill A. Rosenfeld
AU  - Mir Reza Bekheirnia
AU  - Lindsay C. Burrage
AU  - Matthew Hoi Kin Chau
AU  - Chaerish Eint Myet Chae Htoo
AU  - Eric C. Kao
AU  - Shamika Ketkar
AU  - Wan Wan Lim
AU  - Xi Luo
AU  - Rifhan Mazlan
AU  - Elizabeth Mizerik
AU  - Kein Seong Mun
AU  - Kalyani R. Patel
AU  - Lorraine Potocki
AU  - Christina K. Rapp
AU  - Xavier Roca
AU  - Ana Saianda
AU  - Ignacio Iglesias-Serrano
AU  - Everlyn C. Siew
AU  - Donald Yuhui Sim
AU  - David R. Spielberg
AU  - Sok-Kun Tae
AU  - Jing Xian Teo
AU  - Julian Warfsmann
AU  - Fan Xia
AU  - Saumya S. Jamuar
AU  - Ee Shien Tan
AU  - Matthias Griese
AU  - Weng Khong Lim
AU  - Meow-Keong Thong
AU  - Keren Machol
PY  - 2026
JO  - The American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2026.05.008
UR  - https://doi.org/10.1016/j.ajhg.2026.05.008
ER  -

APA

Chan, S. H., Iness, A. N., Rosenfeld, J. A., Bekheirnia, M. R., Burrage, L. C., Chau, M. H. K., Htoo, C. E. M. C., Kao, E. C., Ketkar, S., Lim, W. W., Luo, X., Mazlan, R., Mizerik, E., Mun, K. S., Patel, K. R., Potocki, L., Rapp, C. K., Roca, X., Saianda, A., Iglesias-Serrano, I., Siew, E. C., Sim, D. Y., Spielberg, D. R., Tae, S., Teo, J. X., Warfsmann, J., Xia, F., Jamuar, S. S., Tan, E. S., Griese, M., Lim, W. K., Thong, M., & Machol, K. (2026). Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2026.05.008

Source records

crossref · retrieved 2026-09-27T03:18:35.317Z