A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.

Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T, Dolzhenko E, Martin-Trujillo A, Gies SJ, Altman G, Rocca C, Barbosa M, Jain M, Lahiri N, Lachlan K, Houlden H, Paten B, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, Veldink J, Tucci A, Sharp AJ

Open source

DOI: 10.1038/s41588-024-01917-1
Published: 2024 Nov
Container: Nature 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:10.1038/s41588-024-01917-1,
  title = {A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.},
  author = {Jadhav B and Garg P and van Vugt JJFA and Ibanez K and Gagliardi D and Lee W and Shadrina M and Mokveld T and Dolzhenko E and Martin-Trujillo A and Gies SJ and Altman G and Rocca C and Barbosa M and Jain M and Lahiri N and Lachlan K and Houlden H and Paten B and Genomics England Research Consortium and Project MinE ALS Sequencing Consortium and Veldink J and Tucci A and Sharp AJ},
  year = {2024},
  journal = {Nature genetics},
  doi = {10.1038/s41588-024-01917-1},
  url = {https://doi.org/10.1038/s41588-024-01917-1}
}

RIS

TY  - JOUR
TI  - A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.
AU  - Jadhav B
AU  - Garg P
AU  - van Vugt JJFA
AU  - Ibanez K
AU  - Gagliardi D
AU  - Lee W
AU  - Shadrina M
AU  - Mokveld T
AU  - Dolzhenko E
AU  - Martin-Trujillo A
AU  - Gies SJ
AU  - Altman G
AU  - Rocca C
AU  - Barbosa M
AU  - Jain M
AU  - Lahiri N
AU  - Lachlan K
AU  - Houlden H
AU  - Paten B
AU  - Genomics England Research Consortium
AU  - Project MinE ALS Sequencing Consortium
AU  - Veldink J
AU  - Tucci A
AU  - Sharp AJ
PY  - 2024
JO  - Nature genetics
DO  - 10.1038/s41588-024-01917-1
UR  - https://doi.org/10.1038/s41588-024-01917-1
ER  -

APA

B, J., P, G., JJFA, V. V., K, I., D, G., W, L., M, S., T, M., E, D., A, M., SJ, G., G, A., C, R., M, B., M, J., N, L., K, L., H, H., B, P., Consortium, G. E. R., Consortium, P. M. A. S., J, V., A, T., & AJ, S. (2024). A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.. Nature genetics. https://doi.org/10.1038/s41588-024-01917-1

Source records

pubmed · retrieved 2026-09-25T23:59:42.224Z