{"id":"W1980050623","doi":"10.1007/s00439-011-1073-y","title":"High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44","year":2011,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":147,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta; Credit Valley Hospital; Victoria General Hospital","funders":"","keywords":"Biology; Haploinsufficiency; Microcephaly; Genetics; Phenotype; Candidate gene; Comparative genomic hybridization; Corpus callosum; Corpus Callosum Agenesis; Gene; Microdeletion syndrome; Copy-number variation; Chromosomal region; Agenesis of the corpus callosum; Penetrance; Genome; Chromosome; Neuroscience","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":[0.00005137503,0.0001137985,0.0001417522,0.00003588018,0.0001171163,0.000008227198,0.00009304369,0.00008100129,0.000004438655],"category_scores_gemma":[0.00001352468,0.00008824186,0.00003125333,0.00003974875,0.0003260996,0.000004476122,0.00006120339,0.00003612776,6.684481e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006102815,"about_ca_system_score_gemma":0.00003917125,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003145663,"about_ca_topic_score_gemma":0.0009813878,"domain_scores_codex":[0.9993666,0.00003214652,0.0002288975,0.0001660559,0.00005963298,0.0001466696],"domain_scores_gemma":[0.9995035,0.00001280287,0.00009391819,0.0001871585,0.0001723401,0.00003030306],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002596746,0.0003180767,0.7722542,0.000351685,0.0001247936,3.571168e-7,0.001896275,0.0001150174,0.2048752,0.01944661,0.0001692908,0.0001887287],"study_design_scores_gemma":[0.00150431,0.0007175384,0.7583398,0.00006388572,0.0001439292,0.000008407739,0.0004564082,0.00001207177,0.2354348,0.002300674,0.0007603879,0.0002578016],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974546,0.001302104,0.0006720189,0.00003609811,0.00003798337,0.0002002207,0.0002459084,0.000002357285,0.00004873062],"genre_scores_gemma":[0.9957768,0.000159891,0.003805359,0.0000278939,0.00002975595,0.00001891097,0.00007089609,0.00001323739,0.00009719357],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03055953,"threshold_uncertainty_score":0.3598399,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01150363111671823,"score_gpt":0.2056278802416737,"score_spread":0.1941242491249555,"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."}}