The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.

Di Feo MF, Paramonov I, Matalonga Borrel L, Töpf A, Hoischen A, Beltran S, Graessner H, Vissers L, de Voer R, van Gijn M, Balestrini S, Lerche H, Lesca G, Gayathri SN, Ellwanger K, Cossee M, Perrin A, Sarkozy A, Bonne G, Verdonschot JAJ, Demidov G, Laurie S, Johari M, Solve-RD consortium, Hackman P, Savarese M, Udd B

Open source

DOI: 10.1016/j.gim.2025.101649
Published: 2026 Jun
Container: Genetics in medicine : official journal of the American College of Medical Genetics
Publisher: Not recorded
Open access: no

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.gim.2025.101649,
  title = {The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.},
  author = {Di Feo MF and Paramonov I and Matalonga Borrel L and Töpf A and Hoischen A and Beltran S and Graessner H and Vissers L and de Voer R and van Gijn M and Balestrini S and Lerche H and Lesca G and Gayathri SN and Ellwanger K and Cossee M and Perrin A and Sarkozy A and Bonne G and Verdonschot JAJ and Demidov G and Laurie S and Johari M and Solve-RD consortium and Hackman P and Savarese M and Udd B},
  year = {2026},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2025.101649},
  url = {https://doi.org/10.1016/j.gim.2025.101649}
}

RIS

TY  - JOUR
TI  - The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.
AU  - Di Feo MF
AU  - Paramonov I
AU  - Matalonga Borrel L
AU  - Töpf A
AU  - Hoischen A
AU  - Beltran S
AU  - Graessner H
AU  - Vissers L
AU  - de Voer R
AU  - van Gijn M
AU  - Balestrini S
AU  - Lerche H
AU  - Lesca G
AU  - Gayathri SN
AU  - Ellwanger K
AU  - Cossee M
AU  - Perrin A
AU  - Sarkozy A
AU  - Bonne G
AU  - Verdonschot JAJ
AU  - Demidov G
AU  - Laurie S
AU  - Johari M
AU  - Solve-RD consortium
AU  - Hackman P
AU  - Savarese M
AU  - Udd B
PY  - 2026
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2025.101649
UR  - https://doi.org/10.1016/j.gim.2025.101649
ER  -

APA

MF, D. F., I, P., L, M. B., A, T., A, H., S, B., H, G., L, V., R, D. V., M, V. G., S, B., H, L., G, L., SN, G., K, E., M, C., A, P., A, S., G, B., JAJ, V., G, D., S, L., M, J., consortium, S., P, H., M, S., & B, U. (2026). The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2025.101649

Source records

pubmed · retrieved 2026-09-25T10:30:47.049Z
europe-pmc · retrieved 2026-09-25T10:30:47.064Z
hal · retrieved 2026-09-25T10:30:47.147Z