Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.
- DOI
- 10.1016/j.gim.2026.102716
- Published
- 2026 Sep 8
- Container
- Genetics in medicine : official journal of the American College of Medical Genetics
- Publisher
- Not recorded
- Open access
- unknown
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:10.1016/j.gim.2026.102716,
title = {Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.},
author = {Korona D and Hashimoto AS and Pei Y and Calpena E and Sloane-Stanley J and Riva SG and Schwessinger R and Forzano F and Chintawar S and Duggal G and Wall SA and Hughes JR and Twigg SRF and Wilkie AOM},
year = {2026},
journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
doi = {10.1016/j.gim.2026.102716},
url = {https://doi.org/10.1016/j.gim.2026.102716}
}RIS
TY - JOUR TI - Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling. AU - Korona D AU - Hashimoto AS AU - Pei Y AU - Calpena E AU - Sloane-Stanley J AU - Riva SG AU - Schwessinger R AU - Forzano F AU - Chintawar S AU - Duggal G AU - Wall SA AU - Hughes JR AU - Twigg SRF AU - Wilkie AOM PY - 2026 JO - Genetics in medicine : official journal of the American College of Medical Genetics DO - 10.1016/j.gim.2026.102716 UR - https://doi.org/10.1016/j.gim.2026.102716 ER -
APA
D, K., AS, H., Y, P., E, C., J, S., SG, R., R, S., F, F., S, C., G, D., SA, W., JR, H., SRF, T., & AOM, W. (2026). Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2026.102716
Source records
- pubmed · retrieved 2026-09-26T11:17:36.791Z