{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001760174,0.00009783536,0.0001313933,0.00006356667,0.0003009629,0.00001788674,0.00005007783,0.00003090547,0.0004059291],"category_scores_gemma":[0.0002374774,0.00006314333,0.00003888038,0.0001826057,0.0001177703,0.00008861061,0.00001553286,0.0001010662,0.0001076004],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005907564,"about_ca_system_score_gemma":0.00003181231,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005471863,"about_ca_topic_score_gemma":0.0003001482,"domain_scores_codex":[0.9992881,0.00004824431,0.0001763934,0.0001302755,0.0002114322,0.0001455222],"domain_scores_gemma":[0.9994546,0.0001151392,0.00009641312,0.0001451128,0.0001481126,0.00004064694],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006659558,0.00265426,0.3742342,0.0004943989,0.005758897,0.0009274259,0.3319204,0.00008959668,0.02232789,0.07489331,0.00531726,0.1807163],"study_design_scores_gemma":[0.0008272053,0.0001993693,0.9920201,0.0000898623,0.0003579666,0.00002321755,0.002164218,0.0001700303,0.0004486225,0.003464252,0.0001258294,0.0001093666],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9556656,0.0001392901,0.0004146585,0.0002132044,0.00004584925,0.0003650689,0.000003846477,0.0001187609,0.04303364],"genre_scores_gemma":[0.9981653,0.000002658029,0.0003445345,0.0001954265,0.00004411018,0.00006261561,0.00005061224,0.00001965702,0.001115106],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6177858,"threshold_uncertainty_score":0.4444639,"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."}}