Associated Papers
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Dardas Z et al.
Genome Medicine, 2024
Human Genetics of Atrioventricular Septal Defect.
Maslen CL
Advances in Experimental Medicine and Biology, 2024
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.
Pauta M et al.
Journal of Clinical Medicine, 2021
An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.
Li YJ et al.
Expert Review of Molecular Diagnostics, 2017
28274167 (PubMed )
Supplement: supplement_1.doc
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
Mohapatra B et al.
Human Molecular Genetics, 2009
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Roessler E et al.
Molecular Genetics and Metabolism, 0
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