{"id":"W2098503979","doi":"10.1136/jmg.40.4.233","title":"Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome","year":2003,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":167,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Faculty of Medicine and Health, University of Sydney; United Arab Emirates University; Samfundet Folkhälsan; Helsingin Yliopisto","keywords":"Natural history; Cohort; Pediatrics; Medicine; Genetic heterogeneity; Genetic testing; Genetic diagnosis; Homogeneous; Intellectual disability; Williams syndrome; Genetics; Pathology; Phenotype; Internal medicine; Psychiatry; Biology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004210967,0.0003918286,0.000306596,0.001158451,0.0004416022,0.0002856209,0.0003157899,0.0004627059,0.0009828691],"category_scores_gemma":[0.004512523,0.0001393809,0.0001481845,0.0003304534,0.000676772,0.0002368321,0.0004769219,0.0002859056,0.0001659024],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003607424,"about_ca_system_score_gemma":0.0004640569,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003180114,"about_ca_topic_score_gemma":0.002629682,"domain_scores_codex":[0.9996625,0.00006651938,0.00004057053,0.00005916943,0.00009951622,0.00007180274],"domain_scores_gemma":[0.9988968,0.0004599787,0.0002347014,0.00004769986,0.000154034,0.0002066884],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002278139,0.00005306992,0.9428871,0.00003546369,0.00001515525,0.0414221,0.001143349,0.0002280321,0.007684372,0.0002860003,0.0003338908,0.005683676],"study_design_scores_gemma":[0.00002441012,0.0002311952,0.743413,0.0000392405,0.00002056856,0.2522446,0.001129073,0.0002690218,0.00111811,0.0003841467,0.001099214,0.0000276266],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976866,0.000376464,0.0002563536,0.00007275274,0.000003478135,0.00002750457,0.0001232507,0.000005614987,0.001447945],"genre_scores_gemma":[0.9992067,0.0001484357,0.0002845172,0.0000297795,0.000006261094,0.00001777849,0.0001361096,0.000003333071,0.0001671225],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003180114,"threshold_uncertainty_score":0.006323218,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01464307493127307,"score_gpt":0.2967257699598125,"score_spread":0.2820826950285394,"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."}}