{"id":"W2029125418","doi":"10.1016/j.ajhg.2012.04.008","title":"GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome","year":2012,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":125,"is_retracted":false,"has_abstract":false,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre; University of Saskatchewan; University of Calgary; Manitoba Health; Children's Hospital Research Institute of Manitoba; BC Cancer Agency; University of Manitoba","funders":"National Institute on Deafness and Other Communication Disorders; University of Toronto; National Center for Research Resources; Ontario Genomics Institute; Genome British Columbia; Canadian Institutes of Health Research; National Institutes of Health; Ontario Genomics; Genome Canada; Government of Canada; National Heart, Lung, and Blood Institute; McGill University; University of Ottawa","keywords":"Hearing loss; Audiology; Medicine","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":[0.0006016532,0.00009174194,0.0001380274,0.0000757566,0.0001893812,0.00003635976,0.0002416604,0.00002350147,0.000009048497],"category_scores_gemma":[0.00007231747,0.00005913206,0.00005940673,0.0001814174,0.0004520381,0.00001009267,0.0001412967,0.0002349895,0.000005187643],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001863373,"about_ca_system_score_gemma":0.00005393751,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002362877,"about_ca_topic_score_gemma":0.00006105877,"domain_scores_codex":[0.9990151,0.0001964802,0.0002647303,0.00007178137,0.0001817161,0.0002701946],"domain_scores_gemma":[0.9993369,0.00008136911,0.0001559594,0.0002503171,0.0000790801,0.0000963647],"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":[0.0002875888,0.0005387498,0.4322462,0.00007820514,0.0007619369,0.0001305569,0.01386622,0.001932342,0.50436,0.0006021154,0.002780279,0.04241581],"study_design_scores_gemma":[0.0008244865,0.00204554,0.9686437,0.00004324456,0.0000903302,0.005507702,0.003584492,0.0001465857,0.01216587,0.0004230394,0.006212883,0.0003121302],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969026,0.001699069,0.00008033219,0.001036534,0.00003752996,0.0001204918,0.000004503936,0.000001752425,0.0001171444],"genre_scores_gemma":[0.9991025,0.0002025244,0.0001750208,0.0002382558,0.0001333784,0.000004861342,0.000003264989,0.00001471795,0.0001255189],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5363975,"threshold_uncertainty_score":0.2411335,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02616892993503582,"score_gpt":0.3294890642651636,"score_spread":0.3033201343301277,"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."}}