{"id":"W1966296397","doi":"10.1016/j.ajhg.2014.07.011","title":"Mutations in NOTCH1 Cause Adams-Oliver Syndrome","year":2014,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":190,"is_retracted":false,"has_abstract":false,"ca_institutions":"Child and Family Research Institute; University of British Columbia","funders":"University of British Columbia; National Institute of General Medical Sciences; Deutscher Akademischer Austauschdienst; Gordon and Betty Moore Foundation; Life Sciences Research Foundation; Deutsche Forschungsgemeinschaft; Université du Luxembourg","keywords":"Genetics; Medicine; Biology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002820014,0.00009535982,0.0001590343,0.00007003754,0.00006694911,0.00001777661,0.0002795141,0.00002167086,0.00001331235],"category_scores_gemma":[0.00004569506,0.0000705897,0.00006016869,0.0001280782,0.000233064,0.000002440126,0.00004901763,0.0001060315,0.000006721038],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001051742,"about_ca_system_score_gemma":0.00005804498,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001198671,"about_ca_topic_score_gemma":0.00003907079,"domain_scores_codex":[0.9991974,0.0001119045,0.0002976243,0.00009239058,0.0001443363,0.0001563929],"domain_scores_gemma":[0.9993576,0.00001985697,0.0002976137,0.0001765536,0.00009246852,0.00005585039],"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":[0.0006469389,0.0005425103,0.3579942,0.00004140339,0.0006655786,0.0001689176,0.003770755,0.008102466,0.5622726,0.0007293944,0.008210151,0.05685509],"study_design_scores_gemma":[0.001839345,0.005381865,0.9504615,0.00006583954,0.000139398,0.0008093371,0.002398883,0.0001470884,0.01762877,0.002362825,0.01817252,0.0005926267],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984696,0.0002625079,0.0004654894,0.0002503033,0.00005384146,0.00004625475,9.620096e-7,0.000001652297,0.0004493976],"genre_scores_gemma":[0.9984629,0.0002145263,0.0007364393,0.0003229758,0.00007927645,0.000001500302,0.00000552948,0.00001368711,0.0001631772],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5924673,"threshold_uncertainty_score":0.2878564,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009593107862538435,"score_gpt":0.2613372083894929,"score_spread":0.2517441005269545,"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."}}