{"id":"W2736873598","doi":"10.1002/ajmg.a.38321","title":"Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion","year":2017,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; SickKids Foundation; Hospital for Sick Children; Trillium Health Centre; University of Toronto","funders":"","keywords":"Haploinsufficiency; Agenesis of the corpus callosum; Corpus callosum; Homeobox; Comparative genomic hybridization; Exon; Autism spectrum disorder; Craniofacial; Corneal dystrophy; Medicine; Genetics; Autism; Biology; Anatomy; Phenotype; Gene; Ophthalmology; Transcription factor; Cornea; 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":[0.0001266935,0.001285176,0.0004892173,0.001572116,0.001087715,0.000388586,0.0004165116,0.001246901,0.001489751],"category_scores_gemma":[0.001221799,0.0004406424,0.0002322991,0.0009223687,0.001392189,0.000430199,0.0007137712,0.001105862,0.00022484],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003852236,"about_ca_system_score_gemma":0.0004696097,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002997702,"about_ca_topic_score_gemma":0.005182288,"domain_scores_codex":[0.9997488,0.00003222631,0.00002743638,0.00009301545,0.00004711735,0.00005155569],"domain_scores_gemma":[0.999314,0.0002836825,0.0002191307,0.00003446482,0.000022993,0.0001258378],"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":[0.00005287144,0.00003299976,0.02534407,0.00005843088,0.00001763113,0.9630117,0.0002803752,0.0001263557,0.007029274,0.0002128698,0.0002562778,0.003577108],"study_design_scores_gemma":[0.000007774591,0.00003789223,0.02229188,0.000008169588,0.0000169444,0.9754244,0.00007348718,0.0001102979,0.001497285,0.0001080133,0.0004170237,0.000006770727],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943174,0.0009860935,0.001031545,0.0004834151,0.00002561735,0.00004889225,0.0001939681,0.00006400806,0.002849163],"genre_scores_gemma":[0.9963546,0.0009007487,0.001614789,0.0001177107,0.00006168183,0.00002837439,0.0001011655,0.00001646921,0.0008045615],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002997702,"threshold_uncertainty_score":0.005960524,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01266197834555438,"score_gpt":0.2359751850375638,"score_spread":0.2233132066920095,"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."}}