{"id":"W2339000498","doi":"10.1136/jmedgenet-2015-103601","title":"A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype","year":2016,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":74,"is_retracted":false,"has_abstract":true,"ca_institutions":"Thunder Bay Regional Health Sciences Centre; University of Toronto; University Health Network; North York General Hospital; Mount Sinai Hospital","funders":"Vrije Universiteit Amsterdam; Radboud Universiteit; Stichting Jo Kolk Studiefonds; University Hospitals of Leicester NHS Trust","keywords":"Haploinsufficiency; Microcephaly; Phenotype; Intellectual disability; Autism; Cornelia de Lange Syndrome; Genetics; Biology; Locus (genetics); Developmental disorder; Pathology; Medicine; Gene","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":[0.0006098631,0.0001050371,0.0002458059,0.00004367919,0.00005736708,0.00001645267,0.0003325439,0.0001169357,0.0001193777],"category_scores_gemma":[0.0001404672,0.00004081057,0.000145865,0.000118587,0.000345283,0.000003661253,0.00009473385,0.0001242303,7.968174e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007760003,"about_ca_system_score_gemma":0.0001412402,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001190225,"about_ca_topic_score_gemma":0.000276613,"domain_scores_codex":[0.9986262,0.0001467902,0.0005317255,0.0001144217,0.000436934,0.000143868],"domain_scores_gemma":[0.9990377,0.000113363,0.0003491605,0.0002221642,0.0001692836,0.00010828],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001541467,0.000129774,0.9948528,0.000004785781,0.00130336,0.000004786292,0.0001515932,0.0000777833,0.0002181218,0.00005909068,0.00013193,0.002911815],"study_design_scores_gemma":[0.001259226,0.0009853012,0.9951916,0.00002689966,0.001082039,0.00003438867,0.0002373852,0.0001463569,0.0004337704,0.000143273,0.0003711862,0.00008854204],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928639,0.0009157331,0.002700575,0.003319527,0.0001048567,0.00006894604,0.00001610034,0.000001155144,0.000009213048],"genre_scores_gemma":[0.9987448,0.0006838593,0.0002026809,0.0001771434,0.0001294707,0.000001286903,0.000005230607,0.00000960672,0.00004593641],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005880892,"threshold_uncertainty_score":0.1664207,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01399082832602367,"score_gpt":0.2534969738804377,"score_spread":0.2395061455544141,"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."}}