{"id":"W2618444850","doi":"10.1002/ana.24964","title":"The genetic landscape of familial congenital hydrocephalus","year":2017,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Cerebrospinal fluid and hydrocephalus","field":"Neuroscience","cited_by":148,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"King Abdulaziz City for Science and Technology","keywords":"Hydrocephalus; Genetics; Exome sequencing; Congenital hydrocephalus; Etiology; Medicine; Genetic heterogeneity; Ciliopathies; Pediatrics; Biology; Mutation; Pathology; Phenotype; Gene; Surgery","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":[0.0001841517,0.0003060814,0.0002598944,0.001379366,0.0005111249,0.0004610597,0.0002490769,0.0004391075,0.003559063],"category_scores_gemma":[0.001036913,0.0001110165,0.0001371683,0.0009975039,0.0005521904,0.0003031855,0.0005016809,0.0002310518,0.0002397762],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002775696,"about_ca_system_score_gemma":0.0002981892,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009240663,"about_ca_topic_score_gemma":0.0009620443,"domain_scores_codex":[0.9997328,0.00005295491,0.00001941181,0.00008284273,0.00006161641,0.00005041018],"domain_scores_gemma":[0.9996831,0.00009774011,0.0001140072,0.00001248268,0.00004029527,0.00005234146],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005129913,0.0000697608,0.836607,0.0002403856,0.0002416798,0.04530802,0.001274266,0.0008484118,0.04946674,0.004300809,0.003588632,0.05754133],"study_design_scores_gemma":[0.00003609577,0.0001257077,0.8846399,0.0001486806,0.0001937789,0.09984649,0.001285967,0.0009308016,0.002517962,0.004798515,0.005447691,0.00002838929],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924933,0.00329397,0.0003466822,0.0006355613,0.000008457982,0.000006362865,0.0002375184,0.00001891592,0.00295924],"genre_scores_gemma":[0.9977939,0.001333948,0.0002458676,0.00008202885,0.00003890758,0.000004991504,0.0002331596,0.000007757789,0.0002594441],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003559063,"threshold_uncertainty_score":0.01190621,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05661361504645874,"score_gpt":0.3147147614294855,"score_spread":0.2581011463830267,"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."}}