Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals
Source
Journal of medical genetics - ISSN 0022-2593-62:3 (2025) p. 199-205
Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping
Source
Scientific reports - ISSN 2045-2322-14:1 (2024) p. 1-12
Integration of genetic testing into diagnostic pathways for cardiomyopathies : a clinical consensus statement by the ESC Council on Cardiovascular Genomics
Source
European heart journal - ISSN 0195-668X- (2024) p.
Interpretation and classification of FBN1 variants associated with Marfan syndrome : consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel
Source
Genome medicine - ISSN 1756-994X-16:1 (2024) p. 1-14
Generation of four distinct isogenic cell lines with truncating variants in I-band or A-band titin
Source
Stem cell research - ISSN 1873-5061-81 (2024) p. 1-6