RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

Domènech-Vivó J, Tubeuf H, Mesman RLS, Drouet A, Girardi M, Alonso-Cerezo MC, Baralle D, Boutry-Kryza N, Bunyan DJ, Byers HJ, Caputo SM, Claes KBM, De la Hoya M, Evans DG, Frésard L, Krieger S, Lázaro C, Leone M, Macháčková E, Menéndez M, Moles-Fernández A, Montalban G, Mundt E, Richardson ME, Van Veen EM, Weyandt J, Balmaña J, Spurdle AB, Diez O, Vreeswijk MPG, Martins A, Gutiérrez-Enríquez S

Open source

DOI: 10.1016/j.ajhg.2026.08.001
Published: 2026 Sep 3
Container: American journal of 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:10.1016/j.ajhg.2026.08.001,
  title = {RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.},
  author = {Domènech-Vivó J and Tubeuf H and Mesman RLS and Drouet A and Girardi M and Alonso-Cerezo MC and Baralle D and Boutry-Kryza N and Bunyan DJ and Byers HJ and Caputo SM and Claes KBM and De la Hoya M and Evans DG and Frésard L and Krieger S and Lázaro C and Leone M and Macháčková E and Menéndez M and Moles-Fernández A and Montalban G and Mundt E and Richardson ME and Van Veen EM and Weyandt J and Balmaña J and Spurdle AB and Diez O and Vreeswijk MPG and Martins A and Gutiérrez-Enríquez S},
  year = {2026},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2026.08.001},
  url = {https://doi.org/10.1016/j.ajhg.2026.08.001}
}

RIS

TY  - JOUR
TI  - RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.
AU  - Domènech-Vivó J
AU  - Tubeuf H
AU  - Mesman RLS
AU  - Drouet A
AU  - Girardi M
AU  - Alonso-Cerezo MC
AU  - Baralle D
AU  - Boutry-Kryza N
AU  - Bunyan DJ
AU  - Byers HJ
AU  - Caputo SM
AU  - Claes KBM
AU  - De la Hoya M
AU  - Evans DG
AU  - Frésard L
AU  - Krieger S
AU  - Lázaro C
AU  - Leone M
AU  - Macháčková E
AU  - Menéndez M
AU  - Moles-Fernández A
AU  - Montalban G
AU  - Mundt E
AU  - Richardson ME
AU  - Van Veen EM
AU  - Weyandt J
AU  - Balmaña J
AU  - Spurdle AB
AU  - Diez O
AU  - Vreeswijk MPG
AU  - Martins A
AU  - Gutiérrez-Enríquez S
PY  - 2026
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2026.08.001
UR  - https://doi.org/10.1016/j.ajhg.2026.08.001
ER  -

APA

J, D., H, T., RLS, M., A, D., M, G., MC, A., D, B., N, B., DJ, B., HJ, B., SM, C., KBM, C., M, D. L. H., DG, E., L, F., S, K., C, L., M, L., E, M., M, M., A, M., G, M., E, M., ME, R., EM, V. V., J, W., J, B., AB, S., O, D., MPG, V., A, M., & S, G. (2026). RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2026.08.001

Source records

pubmed · retrieved 2026-09-26T14:59:00.894Z