GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.

Rekerle L, Danis D, Rehburg F, Graefe ASL, Bily V, Caballero-Oteyza A, Cacheiro P, Chimirri L, Chong JX, Connelly E, de Vries BBA, Dingemans AJM, Duyzend MH, Freiberger T, Gehle P, Groza T, Hansen P, Jacobsen JOB, Klocperk A, Ladewig MS, Love MI, Marcello AJ, Mordhorst A, Munoz-Torres MC, Reese J, Schuetz C, Smedley D, Strauss T, Vladyka O, Zocche D, Thun S, Mungall CJ, Haendel MA, Robinson PN

Open source

DOI: 10.1016/j.ajhg.2025.12.001
Published: 2026 Jan 8
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. 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
supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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.2025.12.001,
  title = {GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.},
  author = {Rekerle L and Danis D and Rehburg F and Graefe ASL and Bily V and Caballero-Oteyza A and Cacheiro P and Chimirri L and Chong JX and Connelly E and de Vries BBA and Dingemans AJM and Duyzend MH and Freiberger T and Gehle P and Groza T and Hansen P and Jacobsen JOB and Klocperk A and Ladewig MS and Love MI and Marcello AJ and Mordhorst A and Munoz-Torres MC and Reese J and Schuetz C and Smedley D and Strauss T and Vladyka O and Zocche D and Thun S and Mungall CJ and Haendel MA and Robinson PN},
  year = {2026},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2025.12.001},
  url = {https://doi.org/10.1016/j.ajhg.2025.12.001}
}

RIS

TY  - JOUR
TI  - GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
AU  - Rekerle L
AU  - Danis D
AU  - Rehburg F
AU  - Graefe ASL
AU  - Bily V
AU  - Caballero-Oteyza A
AU  - Cacheiro P
AU  - Chimirri L
AU  - Chong JX
AU  - Connelly E
AU  - de Vries BBA
AU  - Dingemans AJM
AU  - Duyzend MH
AU  - Freiberger T
AU  - Gehle P
AU  - Groza T
AU  - Hansen P
AU  - Jacobsen JOB
AU  - Klocperk A
AU  - Ladewig MS
AU  - Love MI
AU  - Marcello AJ
AU  - Mordhorst A
AU  - Munoz-Torres MC
AU  - Reese J
AU  - Schuetz C
AU  - Smedley D
AU  - Strauss T
AU  - Vladyka O
AU  - Zocche D
AU  - Thun S
AU  - Mungall CJ
AU  - Haendel MA
AU  - Robinson PN
PY  - 2026
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2025.12.001
UR  - https://doi.org/10.1016/j.ajhg.2025.12.001
ER  -

APA

L, R., D, D., F, R., ASL, G., V, B., A, C., P, C., L, C., JX, C., E, C., BBA, D. V., AJM, D., MH, D., T, F., P, G., T, G., P, H., JOB, J., A, K., MS, L., MI, L., AJ, M., A, M., MC, M., J, R., C, S., D, S., T, S., O, V., D, Z., S, T., CJ, M., MA, H., & PN, R. (2026). GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2025.12.001

Source records

pubmed · retrieved 2026-11-10T13:57:34.368Z