Associated Papers
Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.
Ward T et al.
Journal of the American Heart Association, 2025
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.
Krane M et al.
Circulation, 2021
34694888 (PubMed )
Supplement: cir-144-1409-s001.xlsx › 1D_WES_results_PCGC_cohort
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
Sevim Bayrak C et al.
Genome Medicine, 2020
31941532 (PubMed )
Supplement: 13073_2019_709_MOESM1_ESM.xlsx › S2
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
Cannaerts E et al.
Journal of Medical Genetics, 2019
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
Granadillo JL et al.
Human Mutation, 2018
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.
Micha D et al.
Human Mutation, 2015
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