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

Maria Francesca Di Feo; Ida Paramonov; Leslie Matalonga Borrel; Ana Töpf; Alexander Hoischen; Sergi Beltran; Holm Graessner; Lisenka Vissers; Richarda de Voer; Marielle van Gijn; Simona Balestrini; Holger Lerche; Gaëtan Lesca; Swethaa Natraj Gayathri; Kornelia Ellwanger; Mireille Cossee; Aurelien Perrin; Anna Sarkozy; Gisele Bonne; Job A.J. Verdonschot; German Demidov; Steven Laurie; Mridul Johari; Peter Hackman; Marco Savarese; Bjarne Udd

doi:10.1016/j.gim.2025.101649

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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

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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

Maria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, Ana Töpf, Alexander Hoischen, Sergi Beltran, Holm Graessner, Lisenka Vissers, Richarda de Voer, Marielle van Gijn, …

Genetics in Medicine

11/2025

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

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Titre: The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
Créateurs - sans rôle: Maria Francesca Di Feo - Folkhälsans Forskningscentrum
Ida Paramonov
Leslie Matalonga Borrel - Centro Nacional de Análisis Genómico
Ana Töpf - Newcastle University
Alexander Hoischen
Sergi Beltran - Centro Nacional de Análisis Genómico
Holm Graessner - University of Tübingen
Lisenka Vissers
Richarda de Voer
Marielle van Gijn
Simona Balestrini - Meyer Children's Hospital
Holger Lerche - Hertie Institute for Clinical Brain Research
Gaëtan Lesca
Swethaa Natraj Gayathri
Kornelia Ellwanger - University of Tübingen
Mireille Cossee - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Aurelien Perrin - Centre Hospitalier Universitaire de Montpellier
Anna Sarkozy - Great Ormond Street Hospital
Gisele Bonne - Centre de Recherche en Myologie
Job A.J. Verdonschot - Maastricht University
German Demidov - University of Tübingen
Steven Laurie - Centro Nacional de Análisis Genómico
Mridul Johari - The University of Western Australia
Peter Hackman - Folkhälsans Forskningscentrum
Marco Savarese - Folkhälsans Forskningscentrum
Bjarne Udd
Détails de publication: Genetics in Medicine
Identifiants: 99141687609311
Unité académique: Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Langue: English
Type de ressource: Journal article
Champs locaux: hal-05382949