{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Dardas Z"],"funding":["National Institute of Neurological Disorders and Stroke","Baylor-Hopkins Center for Mendelian Genomics","Foundation for the National Institutes of Health","Genomic Research Elucidates the Genetics of Rare disease","NINDS NIH HHS"],"pagination":["53"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10988827"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16(1)"],"pubmed_abstract":["<h4>Background</h4>NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the TGF-β/NODAL signaling pathway have reproducibly been shown to cause laterality defects in humans. To further explore this association and improve genetic diagnosis, the study aims to identify and characterize a broader range of NODAL variants in a large number of individuals with laterality defects.<h4>Methods</h4>We re-analyzed a cohort of 321 proband-only exomes of individuals with clinically diagnosed laterality congenital heart disease (CHD) using family-based, rare variant genomic analyses. To this cohort we added 12 affected subjects with known NODAL variants and CHD from institutional research and clinical cohorts t"],"journal":["Genome medicine"],"pubmed_title":["NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy."],"pmcid":["PMC10988827"],"funding_grant_id":["UM1HG006542","UM1 HG011758","5RO1 HL091771","R35 NS105078","5RO1 HD039056"],"pubmed_authors":["Bi W","Morris SA","Wehrens XHT","Grochowski CM","Muzny DM","Jhangiani SN","Posey JE","Jones EG","Liu P","Gibbs RA","Boerwinkle E","Jolly A","Coban-Akdemir Z","Fatih JM","Dardas Z","Du H","Dawood M","Lupski JR"],"additional_accession":[]},"is_claimable":false,"name":"NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.","description":"<h4>Background</h4>NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the TGF-β/NODAL signaling pathway have reproducibly been shown to cause laterality defects in humans. To further explore this association and improve genetic diagnosis, the study aims to identify and characterize a broader range of NODAL variants in a large number of individuals with laterality defects.<h4>Methods</h4>We re-analyzed a cohort of 321 proband-only exomes of individuals with clinically diagnosed laterality congenital heart disease (CHD) using family-based, rare variant genomic analyses. To this cohort we added 12 affected subjects with known NODAL variants and CHD from institutional research and clinical cohorts t","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Apr","modification":"2025-05-18T10:40:27.417Z","creation":"2025-05-18T10:40:27.417Z"},"accession":"S-EPMC10988827","cross_references":{"pubmed":["38570875"],"doi":["10.1186/s13073-024-01312-9"]}}