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Founder variants in\n                    <jats:italic>GDF1<\/jats:italic>\n                    and\n                    <jats:italic>PLD1<\/jats:italic>\n                    accounted for 74% of the contribution of RGs among 410 Ashkenazi Jewish probands. We identified genome-wide significant enrichment of RGs in\n                    <jats:italic>C1orf127<\/jats:italic>\n                    , encoding a likely secreted protein expressed in embryonic mouse notochord and associated with laterality defects. Single-cell transcriptomes from gastrulation-stage mouse embryos revealed enrichment of RGs in genes highly expressed in the cardiomyocyte lineage, including contractility-related genes\n                    <jats:italic>MYH6, UNC45B<\/jats:italic>\n                    ,\n                    <jats:italic>MYO18B<\/jats:italic>\n                    , and\n                    <jats:italic>MYBPC3<\/jats:italic>\n                    in probands with left-sided CHD, consistent with abnormal contractile function contributing to these malformations. Genes with significant RG burden account for 1.3% of probands, more than half the inferred total. These results reveal the recessive contribution to CHD, and indicate that many genes remain to be discovered, with each likely accounting for a very small fraction of the total.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2419992122","type":"journal-article","created":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T15:06:51Z","timestamp":1741014411000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":19,"title":["Recessive genetic contribution to congenital heart disease in 5,424 probands"],"prefix":"10.1073","volume":"122","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8376-1758","authenticated-orcid":false,"given":"Weilai","family":"Dong","sequence":"first","affiliation":[{"name":"Department of Genetics, Yale School of Medicine","place":["New Haven"]},{"name":"Laboratory of Human Genetics and Genomics, The Rockefeller University","place":["New 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