{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001539031,0.001527873,0.0004471055,0.001810761,0.0006113545,0.0004973846,0.0006092272,0.001926332,0.003937769],"category_scores_gemma":[0.0009636704,0.0004949369,0.0004132369,0.0008631418,0.0008796453,0.0003905052,0.0008439919,0.0007175913,0.0008017374],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005261805,"about_ca_system_score_gemma":0.0003545164,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001334513,"about_ca_topic_score_gemma":0.001669799,"domain_scores_codex":[0.9997187,0.00002916981,0.00004425145,0.00004976577,0.0001069151,0.00005121688],"domain_scores_gemma":[0.9991527,0.0002275192,0.0003070643,0.00003963793,0.00003598671,0.0002371235],"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":[0.00141964,0.0001777891,0.03794038,0.000175802,0.0002116792,0.5142858,0.0006075295,0.0009990727,0.4272221,0.003626768,0.001338564,0.01199488],"study_design_scores_gemma":[0.0004078314,0.0003792788,0.1321862,0.00009591216,0.0004700171,0.6789657,0.0007666654,0.003951999,0.1662432,0.003523657,0.01284635,0.0001631594],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948151,0.0004275034,0.0008863442,0.0002625955,0.0000683062,0.00001638457,0.0002907091,0.0001100373,0.003123051],"genre_scores_gemma":[0.99771,0.0001823654,0.0008870325,0.00004023983,0.00003069745,0.000005976858,0.0000802383,0.00002872736,0.001034686],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003937769,"threshold_uncertainty_score":0.01317316,"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."}}