{"id":"W2141692107","doi":"10.1136/jmedgenet-2012-101132","title":"Mutations in <i>TMEM231</i> cause Joubert syndrome in French Canadians","year":2012,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":75,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire de Sherbrooke; McGill University; Montreal Children's Hospital; McGill University and Génome Québec Innovation Centre; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Université de Montréal; University of Toronto; Ontario Genomics Institute; McGill University; Génome Québec; Canadian Institutes of Health Research; Ontario Genomics; Genome Canada; Government of Canada","keywords":"Joubert syndrome; Cilium; Ciliopathy; Polydactyly; Compound heterozygosity; Biology; Exome sequencing; Phenotype; Mutation; Genetics; Ciliogenesis; Genetic heterogeneity; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0003376976,0.001820399,0.00055354,0.002137727,0.004138773,0.000658566,0.0008563011,0.001537629,0.005918389],"category_scores_gemma":[0.001131788,0.0002904088,0.0007734678,0.001534439,0.0012916,0.0002249292,0.0007586979,0.0005667374,0.0005393351],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004344605,"about_ca_system_score_gemma":0.004641822,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.7100216,"about_ca_topic_score_gemma":0.6860452,"domain_scores_codex":[0.9995616,0.00002400355,0.00002496657,0.000129605,0.0001239566,0.0001358169],"domain_scores_gemma":[0.9995739,0.00006167446,0.00009008066,0.00001252431,0.0001291996,0.0001326409],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001517436,0.0002402665,0.5160554,0.0005620294,0.0004812486,0.3218407,0.00945105,0.001472715,0.07137613,0.003606528,0.01626929,0.05712716],"study_design_scores_gemma":[0.0001430393,0.0002729429,0.6927779,0.000290001,0.0003889299,0.264342,0.003648147,0.001232634,0.00551687,0.0005955917,0.03061216,0.0001799017],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9900104,0.001444351,0.0005360046,0.0007403059,0.00008178766,0.0000418877,0.001068539,0.00006828188,0.006008348],"genre_scores_gemma":[0.9947746,0.0006750797,0.0009958381,0.0002840521,0.00004526877,0.00001495028,0.0004596782,0.00003157116,0.002718948],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2899784,"threshold_uncertainty_score":0.5833722,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01077494327551205,"score_gpt":0.2714353603209262,"score_spread":0.2606604170454142,"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."}}