{"id":"W2138043691","doi":"10.1002/humu.21600","title":"Extending the phenotypes associated with<i>DICER1</i>mutations","year":2011,"lang":"en","type":"article","venue":"Human Mutation","topic":"Congenital Diaphragmatic Hernia Studies","field":"Medicine","cited_by":201,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; McGill University; McGill University Health Centre; Jewish General Hospital","funders":"","keywords":"Biology; Embryonal rhabdomyosarcoma; Germline; Proband; Rhabdomyosarcoma; Sarcoma; Germline mutation; Phenotype; Cancer research; Pathology; Mutation; Gene; Genetics; Medicine","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":[0.0001335291,0.0003973201,0.0001646442,0.0006417738,0.0003233819,0.0002107231,0.0001048302,0.0002727456,0.001798383],"category_scores_gemma":[0.0005018086,0.0001211735,0.0001308949,0.0002547022,0.0003806413,0.0002090905,0.0003876255,0.0002356091,0.0002050106],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001273388,"about_ca_system_score_gemma":0.0001359124,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007575236,"about_ca_topic_score_gemma":0.001108765,"domain_scores_codex":[0.9998804,0.00001988456,0.00001668824,0.00003435984,0.00001974857,0.00002884877],"domain_scores_gemma":[0.9997028,0.00008234967,0.0001138809,0.00001652738,0.0000189026,0.00006551434],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005093757,0.0001234953,0.4460437,0.0001716403,0.00009656822,0.1726899,0.001866005,0.0007104577,0.3243817,0.001921033,0.001476446,0.05000981],"study_design_scores_gemma":[0.00003086165,0.0003353669,0.4461069,0.00004909,0.00009655298,0.5140999,0.0003302986,0.0003365591,0.02921642,0.0006435119,0.00873119,0.00002350385],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966683,0.0005948126,0.0003403967,0.00004679333,0.000004260518,0.000004619023,0.00008990477,0.00001821285,0.002232764],"genre_scores_gemma":[0.9989517,0.0002774296,0.0002582385,0.00002414355,0.00000739112,0.000002118961,0.00007813115,0.000007058012,0.0003937736],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001798383,"threshold_uncertainty_score":0.006016195,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0632839991112007,"score_gpt":0.2878074408121449,"score_spread":0.2245234417009442,"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."}}