Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing.

Carrasco-Zanini J, Andrade J, Pietzner M, Kousathanas A, Jacobsen JOB, Lord J, Telugu N, Diecke S, Mülleder M, Bierbaum D, Vestito L, Robinson PN, Ralser M, Baralle D, Wareham NJ, Elgar G, Potente M, Brown MA, Caulfield M, Smedley D, Langenberg C

Open source

DOI: 10.1126/scitranslmed.aeb1331
Published: 2026 Sep 9
Container: Science translational medicine
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:10.1126/scitranslmed.aeb1331,
  title = {Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing.},
  author = {Carrasco-Zanini J and Andrade J and Pietzner M and Kousathanas A and Jacobsen JOB and Lord J and Telugu N and Diecke S and Mülleder M and Bierbaum D and Vestito L and Robinson PN and Ralser M and Baralle D and Wareham NJ and Elgar G and Potente M and Brown MA and Caulfield M and Smedley D and Langenberg C},
  year = {2026},
  journal = {Science translational medicine},
  doi = {10.1126/scitranslmed.aeb1331},
  url = {https://doi.org/10.1126/scitranslmed.aeb1331}
}

RIS

TY  - JOUR
TI  - Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing.
AU  - Carrasco-Zanini J
AU  - Andrade J
AU  - Pietzner M
AU  - Kousathanas A
AU  - Jacobsen JOB
AU  - Lord J
AU  - Telugu N
AU  - Diecke S
AU  - Mülleder M
AU  - Bierbaum D
AU  - Vestito L
AU  - Robinson PN
AU  - Ralser M
AU  - Baralle D
AU  - Wareham NJ
AU  - Elgar G
AU  - Potente M
AU  - Brown MA
AU  - Caulfield M
AU  - Smedley D
AU  - Langenberg C
PY  - 2026
JO  - Science translational medicine
DO  - 10.1126/scitranslmed.aeb1331
UR  - https://doi.org/10.1126/scitranslmed.aeb1331
ER  -

APA

J, C., J, A., M, P., A, K., JOB, J., J, L., N, T., S, D., M, M., D, B., L, V., PN, R., M, R., D, B., NJ, W., G, E., M, P., MA, B., M, C., D, S., & C, L. (2026). Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing.. Science translational medicine. https://doi.org/10.1126/scitranslmed.aeb1331

Source records

pubmed · retrieved 2026-09-25T04:56:12.189Z