{"id":"W2012236183","doi":"10.1038/ejhg.2013.288","title":"Myhre and LAPS syndromes: clinical and molecular review of 32 patients","year":2014,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Tracheal and airway disorders","field":"Medicine","cited_by":56,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Institute of Genetics; Massachusetts General Hospital; Brigham and Women's Hospital","keywords":"Short stature; Medicine; Brachydactyly; Pediatrics; Noonan syndrome; Internal 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":[0.0007233426,0.00008510526,0.0003345209,0.00004140186,0.00002430086,0.000005886157,0.00007097605,0.00001620893,0.00002129789],"category_scores_gemma":[0.0001417407,0.00006375478,0.00008328902,0.00003517307,0.0001372392,0.00001592402,0.00003981428,0.0001782404,0.000003128249],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002174157,"about_ca_system_score_gemma":0.00001271765,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":1.676265e-7,"about_ca_topic_score_gemma":1.325612e-7,"domain_scores_codex":[0.9987634,0.000255152,0.0006253495,0.00009128374,0.0001796807,0.00008516081],"domain_scores_gemma":[0.9992533,0.00002312146,0.0002891342,0.0001241719,0.0001507139,0.0001595711],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001217717,0.0009300451,0.5480341,0.008849516,0.0003220934,0.0003116747,0.0004858827,0.00000309285,0.002075273,0.0002189131,0.008981656,0.429666],"study_design_scores_gemma":[0.004057155,0.007348966,0.9451952,0.006559408,0.0004272605,0.0001996408,0.00005379167,0.00000952323,0.0001723636,0.0001294559,0.03569349,0.0001537268],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9618299,0.03559009,0.00006890418,0.0002894342,0.00005350968,0.00007608873,0.000001403312,0.000002938101,0.002087756],"genre_scores_gemma":[0.9679987,0.03014538,0.0008812642,0.0008430695,0.00006971314,6.734346e-8,0.000002137168,0.00001873955,0.00004088823],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4295122,"threshold_uncertainty_score":0.2599844,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02823757366979913,"score_gpt":0.3089797925760544,"score_spread":0.2807422189062553,"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."}}