{"id":"W2141781831","doi":"10.1177/0883073811430268","title":"Abnormal Myelination in Ring Chromosome 18 Syndrome","year":2012,"lang":"en","type":"article","venue":"Journal of Child Neurology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"","keywords":"Ring chromosome; Chromosome 18; Chromosome; Genetics; Biology; Long arm; Deletion syndrome; Phenotype; Gene; Karyotype","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":[0.0003112277,0.00009681514,0.0001633582,0.0001277951,0.00004478024,0.000009351474,0.0001457709,0.0001229967,0.00008620015],"category_scores_gemma":[0.00005215167,0.00009024911,0.00008020114,0.0000691715,0.00002659385,0.00002114567,0.00006008059,0.0002143664,0.000007967014],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001055083,"about_ca_system_score_gemma":0.00003336173,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003315369,"about_ca_topic_score_gemma":0.000004986081,"domain_scores_codex":[0.9991028,0.00009433083,0.0003669687,0.00009056708,0.0000934649,0.0002518085],"domain_scores_gemma":[0.9995278,0.00001390223,0.000218395,0.0001144193,0.00005216453,0.00007337714],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001080499,0.001466673,0.8623942,0.0000985708,0.0002990318,0.0004230028,0.0009730069,0.004041403,0.1162048,0.005298758,0.004085047,0.003635021],"study_design_scores_gemma":[0.001733013,0.001483265,0.8862998,0.00001887691,0.00003114922,0.01493512,0.00003445942,0.0000375577,0.02411949,0.0001800959,0.07089094,0.0002362301],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944797,0.0006454354,0.00008757725,0.002577884,0.0005361076,0.00004810754,0.000003118637,0.000002532349,0.00161953],"genre_scores_gemma":[0.9973508,0.0001306382,0.00005564879,0.001740464,0.0006386452,0.000002064187,0.000006788684,0.00001216712,0.00006275608],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09208529,"threshold_uncertainty_score":0.3680252,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008049555898474342,"score_gpt":0.2223273861969697,"score_spread":0.2142778302984953,"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."}}