Finding and computational analyses of a novel mutation in <i>CEP78</i> linked to cone-rod dystrophy and hearing loss

Mahtab Sahami, Mohammad Javad Mokhtari, Navid Nezafat, Mohammad Hossein Nowroozzadeh, Mojtaba Jafarinia

Open source

DOI: 10.1093/hmg/ddag033
Published: 2026
Container: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
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:10.1093/hmg/ddag033,
  title = {Finding and computational analyses of a novel mutation in
                    <i>CEP78</i>
                    linked to cone-rod dystrophy and hearing loss},
  author = {Mahtab Sahami and Mohammad Javad Mokhtari and Navid Nezafat and Mohammad Hossein Nowroozzadeh and Mojtaba Jafarinia},
  year = {2026},
  journal = {Human Molecular Genetics},
  doi = {10.1093/hmg/ddag033},
  url = {https://doi.org/10.1093/hmg/ddag033}
}

RIS

TY  - JOUR
TI  - Finding and computational analyses of a novel mutation in
                    <i>CEP78</i>
                    linked to cone-rod dystrophy and hearing loss
AU  - Mahtab Sahami
AU  - Mohammad Javad Mokhtari
AU  - Navid Nezafat
AU  - Mohammad Hossein Nowroozzadeh
AU  - Mojtaba Jafarinia
PY  - 2026
JO  - Human Molecular Genetics
DO  - 10.1093/hmg/ddag033
UR  - https://doi.org/10.1093/hmg/ddag033
ER  -

APA

Sahami, M., Mokhtari, M. J., Nezafat, N., Nowroozzadeh, M. H., & Jafarinia, M. (2026). Finding and computational analyses of a novel mutation in <i>CEP78</i> linked to cone-rod dystrophy and hearing loss. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddag033

Source records

crossref · retrieved 2026-09-26T22:53:28.211Z