{"id":"W2745048905","doi":"10.1136/jmedgenet-2017-104765","title":"Mutations in <i>MYO1H</i> cause a recessive form of central hypoventilation with autonomic dysfunction","year":2017,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Neuroscience of respiration and sleep","field":"Neuroscience","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"FP7 People: Marie-Curie Actions; Deutsche Forschungsgemeinschaft","keywords":"Congenital central hypoventilation syndrome; Frameshift mutation; Hypoventilation; Genetics; Biology; Mutation; Gene; Respiratory system; Anatomy","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001492064,0.001183559,0.0003774281,0.0004547956,0.0002109569,0.0001446142,0.0003892385,0.0004906179,0.002854622],"category_scores_gemma":[0.0001624824,0.0001605013,0.0002952807,0.0002288178,0.0004319208,0.00008092194,0.0004810033,0.0004236888,0.0004362552],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001724211,"about_ca_system_score_gemma":0.0001655948,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000684655,"about_ca_topic_score_gemma":0.001165676,"domain_scores_codex":[0.9998317,0.00002139628,0.00001702464,0.00005968575,0.00004453164,0.00002557683],"domain_scores_gemma":[0.999814,0.00003850812,0.00008088049,0.000008275395,0.000009687177,0.0000486609],"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":[0.0003076474,0.00006753709,0.007734915,0.0001704029,0.00007034375,0.02726829,0.0001521861,0.0002213981,0.9545591,0.0003733569,0.0007742709,0.008300509],"study_design_scores_gemma":[0.0003609551,0.00132116,0.3131005,0.0001886185,0.0004591728,0.2385676,0.0004317731,0.003833294,0.4176212,0.0007663217,0.02323355,0.0001159034],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.990613,0.0009787017,0.003909412,0.0002403366,0.00006809986,0.00008280289,0.001328633,0.0003175855,0.002461502],"genre_scores_gemma":[0.9947548,0.0004494436,0.002644018,0.0001486951,0.00004043604,0.00003641735,0.0005920971,0.00007312706,0.001260926],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002854622,"threshold_uncertainty_score":0.009549618,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04258078343604297,"score_gpt":0.3141019061339582,"score_spread":0.2715211226979152,"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."}}