{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003615678,0.0015534,0.0009246235,0.00221684,0.000515984,0.0006931362,0.0008868605,0.001073956,0.002170352],"category_scores_gemma":[0.001043285,0.0005042379,0.0006268373,0.001211616,0.0008019277,0.0007002745,0.001051435,0.0005980289,0.0004750958],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000310429,"about_ca_system_score_gemma":0.0004005242,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003529546,"about_ca_topic_score_gemma":0.0003206576,"domain_scores_codex":[0.9997347,0.00003127855,0.0000525949,0.00007398378,0.00005282256,0.00005465683],"domain_scores_gemma":[0.9996805,0.0001143194,0.00006965607,0.00002600676,0.00003096085,0.00007843423],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0004801682,0.00009722015,0.07688501,0.0007372855,0.0002170627,0.8170879,0.001201283,0.000606332,0.019898,0.001058964,0.004176318,0.07755453],"study_design_scores_gemma":[0.0000420531,0.00009399198,0.03877445,0.0001950392,0.0001418499,0.9488841,0.0003597376,0.0001542575,0.001377096,0.0006159823,0.009323794,0.00003760602],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8417077,0.1340989,0.006670686,0.002163301,0.0002654937,0.0002856622,0.001697688,0.0002720768,0.01283839],"genre_scores_gemma":[0.9462473,0.04471601,0.004709519,0.000577433,0.0004147859,0.000117175,0.001393578,0.00004917115,0.001775028],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00221684,"threshold_uncertainty_score":0.007260561,"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."}}