Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Genetic aortopathies: a case-based approach to multidisciplinary program development.
Jordan CP et al.
Current Opinion in Cardiology, 2024
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Vandersteen AM et al.
Journal of Medical Genetics, 2024
Corneal thinning and cornea guttata in patients with mutations in TGFB2.
Eghrari AO et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2020
Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.
Yang H et al.
Orphanet Journal of Rare Diseases, 2020
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E et al.
Human Mutation, 2018
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