{"id":"W1937686758","doi":"10.1002/ajmg.a.37340","title":"7q11.23 Duplication syndrome: Physical characteristics and natural history","year":2015,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Williams Syndrome Research","field":"Neuroscience","cited_by":101,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Simons Foundation","keywords":"Macrocephaly; Pediatrics; Medicine; Hypotonia; Ventriculomegaly; Physical examination; Surgery; Genetics; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000911466,0.0001518008,0.0004345877,0.0001386422,0.00004133074,0.00003139714,0.0006035973,0.00005711175,0.00004326896],"category_scores_gemma":[0.002850921,0.0001242568,0.00007599997,0.0002676762,0.001311209,0.00009472845,0.0001751841,0.0007166912,0.00006964411],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002042909,"about_ca_system_score_gemma":0.0006730107,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006604763,"about_ca_topic_score_gemma":5.585464e-7,"domain_scores_codex":[0.9963535,0.0003141178,0.0004522367,0.0002559374,0.002270553,0.0003536282],"domain_scores_gemma":[0.9977282,0.0003838678,0.0004125355,0.0002483948,0.0001906887,0.001036315],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0007545517,0.002503406,0.02390715,0.0001778449,0.0002175887,0.00713731,0.008288287,0.00002904822,0.1032195,0.001615196,0.06094078,0.7912093],"study_design_scores_gemma":[0.006889394,0.01535495,0.1628274,0.0007425052,0.0002888599,0.05851179,0.001383784,0.03703794,0.01209261,0.001764876,0.7011401,0.001965759],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955556,0.000637728,0.0001830281,0.0027776,0.0006408076,0.00008341903,0.000003475227,0.00001474188,0.0001036388],"genre_scores_gemma":[0.9977359,0.0007785616,0.0002989561,0.0005985572,0.0003508248,0.000004047884,0.000001343013,0.00002447498,0.0002073781],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7892436,"threshold_uncertainty_score":0.5067044,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04677431776563096,"score_gpt":0.3232081732693022,"score_spread":0.2764338555036713,"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."}}