{"id":"W2096348484","doi":"10.1002/ajmg.a.32957","title":"Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals","year":2009,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":147,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Cancer Institute; National Institutes of Health","keywords":"Supernumerary; Natural history; Hearing loss; Pediatrics; Psychomotor learning; Medicine; Audiology; Cognition; Psychiatry; Anatomy; Internal medicine","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":[0.000876347,0.0001633014,0.0005790011,0.00009315809,0.00003750783,0.00001002077,0.0004612036,0.000167045,0.00009904667],"category_scores_gemma":[0.0003551948,0.0001384781,0.0002378413,0.0001771695,0.0004213105,0.000007727383,0.00008405193,0.0002510685,0.000001620377],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009742758,"about_ca_system_score_gemma":0.0004376659,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001036721,"about_ca_topic_score_gemma":0.000001991115,"domain_scores_codex":[0.9974737,0.0002487118,0.001207163,0.0001834961,0.0006805606,0.0002064221],"domain_scores_gemma":[0.9981982,0.00007796498,0.0009312734,0.0002522327,0.0003087064,0.0002316644],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001290163,0.004409516,0.3665726,0.0002569255,0.004130783,0.0004159578,0.003881829,0.00165212,0.04748475,0.001577987,0.01325376,0.5550736],"study_design_scores_gemma":[0.003097737,0.01936007,0.9304972,0.0004156396,0.0004016981,0.003421114,0.002352374,0.00009958794,0.02769202,0.000969796,0.01111106,0.0005817163],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939862,0.001981301,0.003004479,0.000630189,0.0001872992,0.00008597028,0.00003366689,0.000002535857,0.00008838012],"genre_scores_gemma":[0.9924642,0.00172039,0.005014871,0.0004749921,0.0002124172,0.000001759399,0.00003606072,0.00001321993,0.00006201775],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5639246,"threshold_uncertainty_score":0.5646974,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01202581152016253,"score_gpt":0.2958691723831549,"score_spread":0.2838433608629924,"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."}}