Associated Papers
Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.
Watson D et al.
American Journal of Medical Genetics. Part A, 2025
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.
Strong A et al.
American Journal of Medical Genetics. Part A, 2021
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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