New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martínez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart A, Stewart H, Lachlan K, DDD Study, Fryer A, McKay V, Roume J, Dureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M, Ragge NK

Open source

DOI: 10.1007/s00439-018-1875-2
Published: 2019 Sep
Container: Human 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. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. 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
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1007/s00439-018-1875-2,
  title = {New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.},
  author = {Ceroni F and Aguilera-Garcia D and Chassaing N and Bax DA and Blanco-Kelly F and Ramos P and Tarilonte M and Villaverde C and da Silva LRJ and Ballesta-Martínez MJ and Sanchez-Soler MJ and Holt RJ and Cooper-Charles L and Bruty J and Wallis Y and McMullan D and Hoffman J and Bunyan D and Stewart A and Stewart H and Lachlan K and DDD Study and Fryer A and McKay V and Roume J and Dureau P and Saggar A and Griffiths M and Calvas P and Ayuso C and Corton M and Ragge NK},
  year = {2019},
  journal = {Human genetics},
  doi = {10.1007/s00439-018-1875-2},
  url = {https://doi.org/10.1007/s00439-018-1875-2}
}

RIS

TY  - JOUR
TI  - New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
AU  - Ceroni F
AU  - Aguilera-Garcia D
AU  - Chassaing N
AU  - Bax DA
AU  - Blanco-Kelly F
AU  - Ramos P
AU  - Tarilonte M
AU  - Villaverde C
AU  - da Silva LRJ
AU  - Ballesta-Martínez MJ
AU  - Sanchez-Soler MJ
AU  - Holt RJ
AU  - Cooper-Charles L
AU  - Bruty J
AU  - Wallis Y
AU  - McMullan D
AU  - Hoffman J
AU  - Bunyan D
AU  - Stewart A
AU  - Stewart H
AU  - Lachlan K
AU  - DDD Study
AU  - Fryer A
AU  - McKay V
AU  - Roume J
AU  - Dureau P
AU  - Saggar A
AU  - Griffiths M
AU  - Calvas P
AU  - Ayuso C
AU  - Corton M
AU  - Ragge NK
PY  - 2019
JO  - Human genetics
DO  - 10.1007/s00439-018-1875-2
UR  - https://doi.org/10.1007/s00439-018-1875-2
ER  -

APA

F, C., D, A., N, C., DA, B., F, B., P, R., M, T., C, V., LRJ, D. S., MJ, B., MJ, S., RJ, H., L, C., J, B., Y, W., D, M., J, H., D, B., A, S., H, S., K, L., Study, D., A, F., V, M., J, R., P, D., A, S., M, G., P, C., C, A., M, C., & NK, R. (2019). New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.. Human genetics. https://doi.org/10.1007/s00439-018-1875-2

Source records

pubmed · retrieved 2026-09-27T11:46:40.119Z