Article révisé par les pairs
Titre:
  • The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.
Auteur:Di Feo, Maria Francesca; Paramonov, Ida; Matalonga Borrel, Leslie; Töpf, Ana; Hoischen, Alexander; Beltran, Sergi; Graessner, Holm; Vissers, Lisenka E L M LELM; de Voer, Richarda; van Gijn, Marielle; Balestrini, Simona; Lerche, Holger; Lesca, Gaetan; Gayathri, Swethaa Natraj; Ellwanger, Kornelia; Cossee, Mireille; Perrin, Aurelien; Sarkozy, Anna; Bonne, Gisèle; Verdonschot, Job JAJ; Demidov, German; Laurie, Steven; Johari, Mridul; Duerinckx, Sarah; Hackman, Peter; Savarese, Marco; Udd, Bjarne
Informations sur la publication:Genetics in medicine, 28, 6, page (101649)
Statut de publication:Publié, 2025-11-20
Sujet CREF:Sciences bio-médicales et agricoles
Génétique moléculaire
Mots-clés:Cardiomyopathies
Neuromuscular disorders
Secondary findings
TTN
Titinopathies
MeSH keywords:Humans
Connectin -- genetics
Female
Male
Phenotype
Genomics -- methods
Adult
Genetic Predisposition to Disease
Rare Diseases -- genetics
Mutation -- genetics
Cohort Studies
Middle Aged
Genetic Variation -- genetics
Langue:Anglais
Identificateurs:urn:issn:1098-3600
info:doi/10.1016/j.gim.2025.101649
info:pii/S1098-3600(25)00296-5
info:pmid/41277541

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