{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000507987,0.0005081372,0.0004205588,0.001907945,0.0003681828,0.0003694776,0.0002635324,0.0004484913,0.001655503],"category_scores_gemma":[0.002063985,0.0001988755,0.00031499,0.0007285936,0.0004437782,0.0002737149,0.0005679221,0.0002111573,0.0002366774],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002317695,"about_ca_system_score_gemma":0.0001593775,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002707044,"about_ca_topic_score_gemma":0.002116635,"domain_scores_codex":[0.9996265,0.0000817078,0.0000605539,0.0001096585,0.00006077078,0.00006080979],"domain_scores_gemma":[0.9992661,0.0002533258,0.0002611826,0.00002762483,0.00004909671,0.0001426083],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004949187,0.00004318748,0.9913254,0.00001550012,0.00008948355,0.002283415,0.0003944366,0.00007307399,0.003214475,0.00002393267,0.00004577295,0.001996475],"study_design_scores_gemma":[0.00001548669,0.0001844864,0.9958145,0.000004936749,0.00002935522,0.003430531,0.0002197866,0.00008331464,0.0001330556,0.00001869521,0.00006221113,0.000003663569],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9997659,0.00004929269,0.00001757376,0.000003680261,9.333116e-7,0.000002333946,0.00006453495,8.13937e-7,0.00009482822],"genre_scores_gemma":[0.9995763,0.00004584325,0.0000635225,0.000007284464,0.000005123193,0.000005561963,0.0002475542,0.000001508661,0.00004731273],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.002707044,"threshold_uncertainty_score":0.005538166,"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."}}