{"id":"W4385290033","doi":"10.3390/genes14081514","title":"Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant","year":2023,"lang":"en","type":"review","venue":"Genes","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Health Network","funders":"'s Heeren Loo","keywords":"Intellectual disability; CBCL; Phenotype; Borderline intellectual functioning; Genetics; Biology; Medicine; Psychiatry; Internal medicine; Psychology; Gene; Cognition","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001915152,0.0003251163,0.0008545676,0.0001207236,0.0001107228,0.0000442821,0.000158752,0.000292992,0.00001753031],"category_scores_gemma":[0.00002235185,0.0002620979,0.0001219003,0.0001499099,0.0001463475,0.000005311882,0.0002488219,0.0001169377,0.000008120547],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001152203,"about_ca_system_score_gemma":0.0002339598,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005651286,"about_ca_topic_score_gemma":0.00003409297,"domain_scores_codex":[0.9986423,0.0001310276,0.0004513275,0.000423126,0.0001211238,0.0002311118],"domain_scores_gemma":[0.9992705,0.00006487648,0.000256637,0.0002693571,0.00005776713,0.0000808576],"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":[0.00007661545,0.0003663911,0.01863985,0.02377372,0.005389364,0.0001087474,0.002548749,0.00001886945,0.0008764381,0.0003283632,0.001623935,0.9462489],"study_design_scores_gemma":[0.0008392876,0.001903534,0.003405647,0.002565008,0.004963725,0.001157793,0.0007665159,0.000003736679,0.0005980721,0.00005258487,0.9824566,0.001287538],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1446552,0.853526,0.0004312292,0.00000691966,0.00004616841,0.0004073693,0.0008924026,0.00001598704,0.00001878985],"genre_scores_gemma":[0.04553325,0.9517996,0.001249309,0.000004252942,0.0001146407,0.00008486534,0.0008606254,0.00005962879,0.0002937954],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9808326,"threshold_uncertainty_score":0.9999831,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05102023390762549,"score_gpt":0.2999510393620623,"score_spread":0.2489308054544368,"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."}}