Associated Papers
Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis.
Mustafa HJ et al.
Prenatal Diagnosis, 2025
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA et al.
American Journal of Human Genetics, 2024
39043182 (PubMed )
Supplement: mmc1.pdf
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
38245625 (PubMed )
Supplement: 41598_2024_52357_MOESM1_ESM.xlsx › Sheet1
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.
Chapman G et al.
Human Molecular Genetics, 2020
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Alankarage D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Select a paper to view details