Associated Papers
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?
de Koning MA et al.
European Journal of Human Genetics : Ejhg, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Faas BHW et al.
Prenatal Diagnosis, 2023
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.
Reuter MS et al.
Circulation. Genomic and Precision Medicine, 2021
Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5.
Gao X et al.
Clinical Science (london, England : 1979), 2019
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC et al.
Nature Genetics, 2017
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
Genetic basis of human left-right asymmetry disorders.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
Analysis of mutations in 7 candidate genes for dextro-Transposition of the great arteries in Chinese population.
Lei L et al.
Journal of Thoracic Disease, 2014
Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).
Kaasinen E et al.
Human Molecular Genetics, 2010
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
Karkera JD et al.
American Journal of Human Genetics, 2007
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