{"id":"W1871970522","doi":"10.1111/j.1399-0004.2005.00406.x","title":"A variant Cri du Chat phenotype and autism spectrum disorder in a subject with<i>de novo</i>cryptic microdeletions involving 5p15.2 and 3p24.3‐25 detected using whole genomic array CGH","year":2005,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"Autism Canada; University of British Columbia","funders":"","keywords":"Phenotype; Genetics; Autism spectrum disorder; Biology; Autism; Computational biology; Medicine; Gene; 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":[0.0001862169,0.001074551,0.000662867,0.001460223,0.0009361615,0.0004335645,0.0004289626,0.001187791,0.001552915],"category_scores_gemma":[0.001031769,0.0003899383,0.0002897448,0.0005894795,0.000707351,0.0001925852,0.0004100808,0.0006344413,0.0003091222],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004161415,"about_ca_system_score_gemma":0.0003471454,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008535577,"about_ca_topic_score_gemma":0.006906147,"domain_scores_codex":[0.999744,0.00002182799,0.00002830976,0.0001201747,0.00004319178,0.00004244711],"domain_scores_gemma":[0.9995969,0.0001346253,0.00008777797,0.00002053422,0.00003325597,0.0001269452],"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":[0.0005906105,0.0003545997,0.1506861,0.0001042337,0.00007426479,0.7278118,0.003609205,0.0003344187,0.1042868,0.0005091745,0.0007493082,0.01088946],"study_design_scores_gemma":[0.00005871174,0.0008355177,0.3160315,0.00002875585,0.00007823302,0.6752811,0.0005706254,0.001194254,0.004690867,0.0002006687,0.0009919264,0.00003787607],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987355,0.000098432,0.0002931275,0.0001055701,0.00001524086,0.00001679852,0.00006598423,0.00003566358,0.000633703],"genre_scores_gemma":[0.9990011,0.00005893217,0.0003195178,0.00006225309,0.00002656456,0.00000857335,0.00005015384,0.000008063254,0.0004649413],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008535577,"threshold_uncertainty_score":0.01697177,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01349751460234552,"score_gpt":0.25199207514105,"score_spread":0.2384945605387045,"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."}}