{"id":"W2581998947","doi":"10.1016/j.ajhg.2016.12.013","title":"A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay","year":2017,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":51,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; Regeneron Pharmaceuticals; March of Dimes Foundation","keywords":"Missense mutation; Microcephaly; Genetics; Biology; Neurodevelopmental disorder; Intellectual disability; Exome sequencing; Phenotype; Epilepsy; Germline; Global developmental delay; Allele; Gene; Neuroscience","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002987025,0.002274168,0.0006466225,0.001505308,0.0008040587,0.0005174818,0.001159642,0.002851631,0.001782295],"category_scores_gemma":[0.002319988,0.000396212,0.0007506873,0.0009226649,0.001173236,0.0003332588,0.0009533528,0.001078627,0.0007259799],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000789557,"about_ca_system_score_gemma":0.000711472,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003682971,"about_ca_topic_score_gemma":0.005848926,"domain_scores_codex":[0.9993698,0.00006304977,0.00008533628,0.0001714253,0.0002210133,0.00008940991],"domain_scores_gemma":[0.9979305,0.0006299221,0.0005792437,0.0001612178,0.0001403193,0.0005587697],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0004476569,0.0001161937,0.02159273,0.00008541607,0.0001543475,0.8193347,0.0005812517,0.0007957877,0.1469576,0.001054228,0.001335591,0.007544519],"study_design_scores_gemma":[0.00009611535,0.0002680249,0.05929169,0.00004599595,0.0001664188,0.9062753,0.0003103001,0.002299367,0.02603827,0.0006826658,0.00442506,0.0001006664],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933756,0.000506962,0.001923496,0.0005784322,0.0001780002,0.00004928499,0.0006206966,0.0002210532,0.002546364],"genre_scores_gemma":[0.9968857,0.0001190265,0.001566379,0.0001511054,0.00009874622,0.00001469948,0.0002397817,0.00006394369,0.0008605283],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003682971,"threshold_uncertainty_score":0.007323086,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01047131496005843,"score_gpt":0.2678055622790471,"score_spread":0.2573342473189887,"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."}}