Associated Papers
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40127276 (PubMed )
Supplement: pnas.2420343122.sd04.xlsx › DS4._Panel_Mutations
Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension.
Karl S et al.
Npj Genomic Medicine, 2025
40133303 (PubMed )
Supplement: 41525_2025_484_MOESM1_ESM.pdf
Loss of Function Variant in SMAD6 Is Associated With a Novel Phenotype of Internal Carotid Artery Dissection.
Alghamdi MA et al.
Circulation. Genomic and Precision Medicine, 2024
SMAD6-deficiency in human genetic disorders.
Luyckx I et al.
Npj Genomic Medicine, 2022
36414630 (PubMed )
Supplement: 41525_2022_338_MOESM2_ESM.xlsx › Suppl_Table1
Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
Parker LE et al.
Journal of the American Heart Association, 2021
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32499606 (PubMed )
Supplement: 41436_2020_817_MOESM3_ESM.xlsx › Table_S2
SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.
Yang Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm.
Park JE et al.
Molecular Genetics & Genomic Medicine, 2019
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