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

Lookup NU author(s): Dr Ana TopfORCiD, Professor Hanns Lochmuller

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

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Author(s): Di Feo MF, Paramonov I, Matalonga Borrel L, Topf A, et al, Solve-RD Consortium

Publication type: Article

Publication status: Published

Journal: Genetics in Medicine

Year: 2026

Volume: 28

Issue: 6

Print publication date: 01/06/2026

Online publication date: 20/11/2025

Acceptance date: 10/11/2025

Date deposited: 16/06/2026

ISSN (print): 1098-3600

ISSN (electronic): 1530-0366

Publisher: Elsevier Inc.

URL: https://doi.org/10.1016/j.gim.2025.101649

DOI: 10.1016/j.gim.2025.101649

Data Access Statement: All variants of clinical interest are available in supplemental tables. More detailed information is available from the corresponding authors upon request. Genetic and phenotypic data for all individuals is accessible to registered users of the RD-Connect GPAP (platform.rd-connect.eu). All raw and processed data files can be made available at the European Genome-Phenome Archive (https://ega-archive.org/ under the Solve-RD study EGAS00001003851), following approval from the Solve-RD Data Access Committee.

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