{"id":"W2763010484","doi":"10.1038/ng.3970","title":"Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands","year":2017,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":928,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of General Medical Sciences; National Center for Advancing Translational Sciences; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institutes of Health","keywords":"Proband; Biology; Genetics; Exome sequencing; Heart disease; Exome; Tetralogy of Fallot; Mutation; Gene; Internal medicine; Medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009479004487232271,"score_gpt":0.3019473565400703,"score_spread":0.2924683520528381,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}