Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.
- DOI
- 10.1038/s10038-025-01325-1
- Published
- 2025 May
- Container
- Journal of human genetics
- Publisher
- Not recorded
- Open access
- no
Credibility signals
limited evidence Score 43/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
Show all credibility signals
- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- 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.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- 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.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredOpen access status: Not checked or no result supplied; no credibility inference made.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Cite this work
BibTeX
@article{allodium:10.1038/s10038-025-01325-1,
title = {Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.},
author = {Kim D and Yoon JH and Bae H and Hwang S and Seo GH and Koh JY and Ju YS and Do HS and Kim S and Choi IH and Kim GH and Kim JH and Choi JH and Lee BH},
year = {2025},
journal = {Journal of human genetics},
doi = {10.1038/s10038-025-01325-1},
url = {https://doi.org/10.1038/s10038-025-01325-1}
}RIS
TY - JOUR TI - Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome. AU - Kim D AU - Yoon JH AU - Bae H AU - Hwang S AU - Seo GH AU - Koh JY AU - Ju YS AU - Do HS AU - Kim S AU - Choi IH AU - Kim GH AU - Kim JH AU - Choi JH AU - Lee BH PY - 2025 JO - Journal of human genetics DO - 10.1038/s10038-025-01325-1 UR - https://doi.org/10.1038/s10038-025-01325-1 ER -
APA
D, K., JH, Y., H, B., S, H., GH, S., JY, K., YS, J., HS, D., S, K., IH, C., GH, K., JH, K., JH, C., & BH, L. (2025). Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.. Journal of human genetics. https://doi.org/10.1038/s10038-025-01325-1
Source records
- pubmed · retrieved 2026-09-26T14:37:46.333Z
- europe-pmc · retrieved 2026-09-26T14:37:46.328Z