{"id":"W1985865533","doi":"10.1002/ajmg.a.30565","title":"CHARGE syndrome from birth to adulthood: An individual reported on from 0 to 33 years","year":2005,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Izaak Walton Killam Health Centre; Dalhousie University","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of General Medical Sciences","keywords":"CHARGE syndrome; Choanal atresia; Medicine; Pediatrics; Ductus arteriosus; Coloboma; Strabismus; Anxiety; Atresia; Internal medicine; Surgery; Anatomy; Psychiatry","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":[0.0001583926,0.001161553,0.0006439249,0.001831413,0.001992889,0.0005762401,0.0004284612,0.0009677044,0.002419463],"category_scores_gemma":[0.0008753472,0.0003821325,0.0003354867,0.001161002,0.0006422474,0.0007934675,0.0009716252,0.001214274,0.0004202021],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000371347,"about_ca_system_score_gemma":0.0004787644,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003924301,"about_ca_topic_score_gemma":0.005200406,"domain_scores_codex":[0.9997639,0.00001633053,0.00002032135,0.00006692767,0.00004770531,0.00008482837],"domain_scores_gemma":[0.9995389,0.00006334065,0.00006963486,0.00001939917,0.00004771623,0.0002611931],"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":[0.00009392902,0.0002170471,0.187867,0.00003341014,0.0000252124,0.7921115,0.002107866,0.0001529154,0.003183417,0.0007149926,0.00187936,0.01161349],"study_design_scores_gemma":[0.00001175304,0.000375923,0.1590818,0.00005410985,0.00003153503,0.8352994,0.001089583,0.0001815173,0.0004120938,0.0004014944,0.003020585,0.00004023588],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898526,0.001044916,0.0006402702,0.001028002,0.0001162915,0.00004285164,0.0003403502,0.00007310522,0.006861584],"genre_scores_gemma":[0.9959536,0.000868466,0.0003846326,0.0004728192,0.00007659593,0.00001446626,0.000202601,0.00001070605,0.002016183],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003924301,"threshold_uncertainty_score":0.008093953,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02534515279151887,"score_gpt":0.3074665337853183,"score_spread":0.2821213809937994,"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."}}