{"id":"W4391611911","doi":"10.1002/mds.29669","title":"Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals","year":2024,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; McGill Genome Centre; Montreal Neurological Institute and Hospital; McGill University; Montreal Clinical Research Institute; McGill University Health Centre","funders":"Canadian Institutes of Health Research; Canada Foundation for Innovation; Children's Hospital Foundation; McGill University; Faculty of Medicine, McGill University; Courtois Foundation","keywords":"Missense mutation; Penetrance; Proband; Genetics; Biology; Gene; Netrin; Mutation; Phenotype","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":[0.0002515384,0.0007397787,0.0003685959,0.001367558,0.0007455393,0.0003623304,0.0002585452,0.0005239979,0.002449574],"category_scores_gemma":[0.001419046,0.0002425726,0.0002690571,0.0006989171,0.0004575525,0.0002160495,0.0006887758,0.0002293116,0.0002913423],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003676111,"about_ca_system_score_gemma":0.0001650113,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002322045,"about_ca_topic_score_gemma":0.001591112,"domain_scores_codex":[0.9996668,0.00003729725,0.00003356437,0.0001190312,0.00006920402,0.0000739947],"domain_scores_gemma":[0.9996979,0.0001014023,0.00008467463,0.00001746272,0.00003446981,0.00006407016],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004556773,0.0001203778,0.9378377,0.00004399304,0.00006971424,0.02665603,0.001151489,0.0002656772,0.02230497,0.0001221375,0.0003031927,0.01066901],"study_design_scores_gemma":[0.00003626675,0.0004042023,0.9507081,0.00002128078,0.0001133922,0.04332979,0.0005899036,0.0006252952,0.002913229,0.0001635005,0.001079262,0.0000156844],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994992,0.00008031783,0.00006843235,0.00001043684,8.675048e-7,0.000006903136,0.0000607828,0.000004732544,0.0002684117],"genre_scores_gemma":[0.9993279,0.00008979452,0.000231821,0.0000197095,0.000004008197,0.00001097567,0.0001621613,0.000004965197,0.0001486732],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002449574,"threshold_uncertainty_score":0.008194625,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00996824012173763,"score_gpt":0.2596842454210392,"score_spread":0.2497160052993015,"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."}}