{"id":"W2121855216","doi":"10.1155/2012/578018","title":"Autism Spectrum Disorder in a Girl with a<i>De Novo</i>X;19 Balanced Translocation","year":2012,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Universidade Estadual Paulista; Queen's University","keywords":"Chromosomal translocation; Karyotype; X chromosome; Genetics; Breakpoint; Monosomy; Girl; Autism; Medicine; Biology; Chromosome; Gene; Psychiatry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002291655,0.0001900829,0.000149186,0.00008284042,0.00004160734,0.00001451978,0.00005636001,0.0001358852,0.00001361828],"category_scores_gemma":[0.00002118682,0.000190423,0.00003576414,0.0002022154,0.00006333263,0.000004289521,0.00004336354,0.0001096161,0.000001672248],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004040544,"about_ca_system_score_gemma":0.0001500968,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006287835,"about_ca_topic_score_gemma":0.001265445,"domain_scores_codex":[0.9986622,0.0000443607,0.0003545067,0.000350718,0.0001234163,0.0004647551],"domain_scores_gemma":[0.999396,0.000005973171,0.00009188607,0.0003589296,0.00001235251,0.0001348694],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00009415238,0.0005751963,0.8149477,0.00006651735,0.00003295787,0.005965821,0.0009776581,0.004663808,0.1672315,0.00008987926,0.0001263873,0.005228419],"study_design_scores_gemma":[0.002786716,0.0004918191,0.7898567,0.00008291751,0.00003804753,0.05349986,0.0007283202,0.0003515489,0.1156838,0.0004733883,0.03477401,0.001232827],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940602,0.003349361,0.001330745,0.0001874155,0.0001549812,0.0003068747,0.000004268747,0.000008894356,0.0005973246],"genre_scores_gemma":[0.9964462,0.001086044,0.001956355,0.0001943995,0.00002626357,0.00005242839,0.00005274931,0.00003754185,0.0001480319],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05154771,"threshold_uncertainty_score":0.7765226,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00713132799962971,"score_gpt":0.2334217001781766,"score_spread":0.2262903721785469,"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."}}