{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001381145,0.0001248641,0.0002403407,0.00004705196,0.0003888506,0.00003226926,0.0009331341,0.00007997784,0.00003952411],"category_scores_gemma":[0.0008404061,0.00009198729,0.0001248117,0.0000519802,0.0007791789,0.00008750483,0.0002326312,0.0001519656,0.00003423218],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":6.782836e-7,"about_ca_system_score_gemma":0.00003868544,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006169288,"about_ca_topic_score_gemma":0.00004255232,"domain_scores_codex":[0.9987476,0.00009855901,0.000314042,0.0002907307,0.0002201989,0.0003288406],"domain_scores_gemma":[0.9985857,0.0002990763,0.0002992673,0.0006721716,0.00007593648,0.00006784505],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001702112,0.0003015353,0.03862339,0.00004976898,0.0000477944,0.0002136716,0.0002716972,0.0001070774,0.923566,0.009650094,0.005794947,0.01967184],"study_design_scores_gemma":[0.001190399,0.002833921,0.4883446,0.000007124085,0.00003221497,0.0002425988,0.00001254956,0.002640441,0.4794637,0.006514469,0.01845797,0.0002600543],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.986775,0.0002828302,0.000004247715,0.002923512,0.0005009131,0.0001115942,0.00002099188,0.0000145374,0.009366411],"genre_scores_gemma":[0.9976134,0.0006862535,0.000003645432,0.001339957,0.0001267891,0.000004845084,3.542202e-7,0.00001376015,0.0002109781],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4497212,"threshold_uncertainty_score":0.3751133,"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."}}