{"id":"W2007943561","doi":"10.1371/journal.pgen.0030080","title":"NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects","year":2007,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":126,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Western Ontario","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Cancer Institute; National Institutes of Health; National Institute of General Medical Sciences; Evans Medical Foundation; Dana-Farber/Harvard Cancer Center","keywords":"Haploinsufficiency; Biology; Agenesis of the corpus callosum; Vesicoureteral reflux; Corpus callosum; Pathology; Genetics; Phenotype; Anatomy; Medicine; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009695512,0.0001194391,0.0001691719,0.00007279492,0.00006344872,0.00001017887,0.0000414521,0.00009708478,0.00005391949],"category_scores_gemma":[0.00006505625,0.00008690169,0.00003312381,0.0002305977,0.00006222124,0.0000355296,0.00002206653,0.0001581719,0.00002346876],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001483158,"about_ca_system_score_gemma":0.00002509569,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001377847,"about_ca_topic_score_gemma":0.000001914661,"domain_scores_codex":[0.9991454,0.00001537088,0.0001696315,0.0001690099,0.0002505858,0.0002499372],"domain_scores_gemma":[0.9995652,0.00008104253,0.00006467847,0.0001077148,0.00004639439,0.0001349185],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009254015,0.01064942,0.9673312,0.0005879922,0.000247822,0.00350295,0.002454766,0.00007061769,0.008938278,0.0001070766,0.000688692,0.004495773],"study_design_scores_gemma":[0.001386442,0.007460258,0.98623,0.00003851849,0.0002526639,0.0008537499,0.00007089711,0.002077659,0.0009424819,0.0001331532,0.0003603836,0.0001938165],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956825,0.0007048759,0.00005544035,0.0002727964,0.00002433365,0.0002760198,0.000009537042,0.00006340956,0.002911026],"genre_scores_gemma":[0.9985631,0.0001854265,0.0001283129,0.0009328023,0.00002194615,0.000003624651,0.00001573855,0.00001351456,0.0001355275],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01889877,"threshold_uncertainty_score":0.3543748,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0192744441979725,"score_gpt":0.2286203104131975,"score_spread":0.209345866215225,"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."}}