{"id":"W2042626978","doi":"10.1002/ajmg.a.33821","title":"2q23 de novo microdeletion involving the <i>MBD5</i> gene in a patient with developmental delay, postnatal microcephaly and distinct facial features","year":2011,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"","keywords":"Microcephaly; Short stature; Global developmental delay; Chromosome; Genetics; Psychology; Pediatrics; Medicine; Biology; Gene; Phenotype","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":[0.0002886018,0.0001269319,0.0001591431,0.0000398352,0.000074541,0.0000204735,0.000212728,0.00006615424,0.00002067649],"category_scores_gemma":[0.00004466566,0.00008534214,0.00004174107,0.00008232371,0.0003137224,0.000004263601,0.0001082438,0.0001830951,6.622562e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002778775,"about_ca_system_score_gemma":0.0003535095,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009817498,"about_ca_topic_score_gemma":0.0002617083,"domain_scores_codex":[0.9989709,0.00008316981,0.0003173709,0.0001405075,0.0002664224,0.0002215954],"domain_scores_gemma":[0.999467,0.00001576671,0.0002030165,0.00008310034,0.00007871195,0.0001524511],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003797603,0.001501419,0.4376051,0.00009087783,0.001173149,0.004461073,0.04457835,0.0001695004,0.3326889,0.0001958589,0.002751742,0.1709864],"study_design_scores_gemma":[0.007076221,0.01291069,0.4561839,0.0004428216,0.0003229255,0.1492611,0.0319381,0.0001329325,0.3020667,0.0002121987,0.03778533,0.001667159],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977295,0.001306585,0.0005624543,0.0001931159,0.00005347933,0.00006492571,0.00001355182,0.000001514018,0.00007489224],"genre_scores_gemma":[0.9929056,0.0007156841,0.005754007,0.0004628343,0.0001213186,0.000004925714,0.0000115077,0.00001248305,0.00001167666],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1693193,"threshold_uncertainty_score":0.3480151,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006944587582552862,"score_gpt":0.2028793726136082,"score_spread":0.1959347850310554,"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."}}