2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Sierant M, Jin S, Bilguvar K, Morton S, Dong W, Jiang W, Lu Z, Li B, López-Giráldez F, Tikhonova I, Zeng X, Lu Q, Choi J, Zhang J, Nelson-Williams C, Knight J, Zhao H, Cao J, Mane S, Sedore S, Gruber P, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor J, King E, Wagner M, Srivastava D, Shen Y, Bernstein D, Porter G, Newburger J, Seidman J, Roberts A, Yandell M, Yost H, Tristani-Firouzi M, Kim R, Chung W, Gelb B, Seidman C, Brueckner M, Lifton R. Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2420343122. PMID: 40127276, PMCID: PMC12002227, DOI: 10.1073/pnas.2420343122.Peer-Reviewed Original ResearchConceptsCongenital heart disease genesCongenital heart diseaseDamaging variantsMissense variantsAnalyzing de novo mutationsCHD probandsEpidermal growth factor (EGF)-like domainsNeurodevelopmental delayLoss of function variantsParent-offspring triosSyndromic congenital heart diseaseHeart disease genesDisease genesGenomic analysisCongenital heart disease subtypesAssociated with neurodevelopmental delayTetralogy of FallotFunctional variantsIncomplete penetranceCHD phenotypesGenesAssociated with developmentGenetic testingMolecular diagnosticsExtracardiac abnormalities
2022
Mutation spectrum of congenital heart disease in a consanguineous Turkish population
Dong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan‐Sencicek A, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M. Mutation spectrum of congenital heart disease in a consanguineous Turkish population. Molecular Genetics & Genomic Medicine 2022, 10: e1944. PMID: 35481623, PMCID: PMC9184665, DOI: 10.1002/mgg3.1944.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingLaterality defectsUnique genetic architectureCongenital heart diseaseConsanguineous familyGenetic architectureCausal genesCHD genesGenome analysisHomozygous variantGenetic landscapeGenetic lesionsGenomic alterationsHeart diseaseConsanguineous populationFunction variantsRecessive variantsCHD probandsGenesType of CHDMutation spectrumStructural congenital heart diseaseVariantsCHD subjectsAdditional patients
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