Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
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
Clinical interest of molecular study in cases of isolated midline craniosynostosis.
Di Rocco F et al.
European Journal of Human Genetics : Ejhg, 2023
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
A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.
Shen F et al.
Molecular Genetics & Genomic Medicine, 2022
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
Impact of SMAD6 Variants on Neurodevelopment in Craniosynostosis.
Verlut I et al.
The Journal of Craniofacial Surgery, 0
Select a paper to view details