{"id":"W1970182642","doi":"10.1002/ajmg.a.20231","title":"A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD","year":2003,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"Victoria General Hospital; University of Calgary","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health","keywords":"Short stature; Breakpoint; X chromosome; Genetics; Chondrodysplasia punctata; Chromosome; Long arm; Gene; Medicine; Psychology; Psychiatry; Pediatrics; Biology","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":[0.0001117613,0.001097022,0.0005286716,0.000515489,0.0007291135,0.0003178341,0.0003298432,0.0006462658,0.002464376],"category_scores_gemma":[0.0006834281,0.0002365827,0.000234335,0.0005005987,0.0006521664,0.0002058535,0.0007400573,0.0005461364,0.0003118475],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000250218,"about_ca_system_score_gemma":0.0002990396,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001587745,"about_ca_topic_score_gemma":0.002796706,"domain_scores_codex":[0.9998184,0.00002338204,0.00001768222,0.0000488335,0.00005191204,0.00003976592],"domain_scores_gemma":[0.9997415,0.00007266901,0.00008169789,0.00001545027,0.00001545319,0.00007317885],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0003953361,0.0001343174,0.06263867,0.0001124943,0.00009078917,0.8569466,0.0009609183,0.0002201004,0.05145213,0.001270842,0.001158696,0.02461896],"study_design_scores_gemma":[0.00005979573,0.0002211998,0.0789487,0.0000238707,0.00007592527,0.9117553,0.0002396539,0.0002595417,0.004529452,0.0004580223,0.003411141,0.00001746707],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933358,0.00106719,0.001250072,0.0002637154,0.00004228111,0.00002628285,0.0001926234,0.00009698116,0.003725085],"genre_scores_gemma":[0.9960121,0.00056776,0.001080943,0.0001297846,0.0000490412,0.00001486563,0.0001869064,0.00002309612,0.001935523],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002464376,"threshold_uncertainty_score":0.008244157,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009649628780386551,"score_gpt":0.2585197137520015,"score_spread":0.2488700849716149,"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."}}