Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.
- DOI
- 10.1016/j.ajhg.2025.10.015
- Published
- 2025 Dec 4
- Container
- American journal of human genetics
- Publisher
- Not recorded
- Open access
- yes
Credibility signals
limited evidence Score 45/100 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.
- supportingOpen access status: Normalized open-access status: open.
- 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.ajhg.2025.10.015,
title = {Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.},
author = {Bresack B and Kohl LR and Afenjar A and Audic F and Burglen L and Charles P and Dundar NO and van de Kamp J and Machol K and Magoulas P and Goze-Martineau O and Motazacker M and Philippi H and Reyes A and Tutakhel OAZ and Bertoli-Avella A and Sticht H and Abou Jamra R and Oppermann H},
year = {2025},
journal = {American journal of human genetics},
doi = {10.1016/j.ajhg.2025.10.015},
url = {https://doi.org/10.1016/j.ajhg.2025.10.015}
}RIS
TY - JOUR TI - Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia. AU - Bresack B AU - Kohl LR AU - Afenjar A AU - Audic F AU - Burglen L AU - Charles P AU - Dundar NO AU - van de Kamp J AU - Machol K AU - Magoulas P AU - Goze-Martineau O AU - Motazacker M AU - Philippi H AU - Reyes A AU - Tutakhel OAZ AU - Bertoli-Avella A AU - Sticht H AU - Abou Jamra R AU - Oppermann H PY - 2025 JO - American journal of human genetics DO - 10.1016/j.ajhg.2025.10.015 UR - https://doi.org/10.1016/j.ajhg.2025.10.015 ER -
APA
B, B., LR, K., A, A., F, A., L, B., P, C., NO, D., J, V. D. K., K, M., P, M., O, G., M, M., H, P., A, R., OAZ, T., A, B., H, S., R, A. J., & H, O. (2025). Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2025.10.015
Source records
- pubmed · retrieved 2026-09-26T15:17:16.382Z