{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003005818,0.0002209316,0.0002590147,0.00006028676,0.0001580232,0.000073182,0.0001356446,0.0002263941,0.00001718845],"category_scores_gemma":[0.00006191883,0.0002142165,0.00005743951,0.0001053545,0.0002102134,0.000008209076,0.0001431906,0.0001960958,0.00000484168],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000373731,"about_ca_system_score_gemma":0.0001842748,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009299358,"about_ca_topic_score_gemma":0.0008040622,"domain_scores_codex":[0.9984588,0.0001264463,0.0004817496,0.0004753346,0.00007287721,0.0003847794],"domain_scores_gemma":[0.999345,0.00005427392,0.0001192361,0.0003058014,0.00003445907,0.0001412117],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002918376,0.0005456292,0.2981957,0.00009418975,0.0002210777,0.00003704239,0.001275368,0.007157196,0.688756,0.0006977365,0.00003868166,0.002689469],"study_design_scores_gemma":[0.008248009,0.002376292,0.9091122,0.0001985,0.0004529361,0.0009074184,0.001191704,0.03017269,0.0162966,0.002028279,0.02710989,0.001905482],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906068,0.003397455,0.004747071,0.0008488322,0.00008038443,0.0002217027,0.00002841012,0.00001384951,0.00005546078],"genre_scores_gemma":[0.9831414,0.001942225,0.01407862,0.000352499,0.0003098714,0.00001197282,0.00002950715,0.00003825497,0.00009569883],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6724595,"threshold_uncertainty_score":0.8735495,"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."}}