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 complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Vandersteen AM et al.
Journal of Medical Genetics, 2024
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
Verstraeten A et al.
Circulation, 2020
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
Marsili L et al.
Clinical Genetics, 2020
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