Associated Papers
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
40030011 (PubMed )
Supplement: pnas.2419992122.sapp.pdf
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies.
Ridnõi K et al.
Molecular Genetics & Genomic 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
Genetic basis of human left-right asymmetry disorders.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).
Kaasinen E et al.
Human Molecular Genetics, 2010
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