{"id":"W2978183744","doi":"10.1016/j.ajhg.2019.08.013","title":"Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Microtubule and mitosis dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster Children's Hospital","funders":"National Institute of Mental Health; National Institutes of Health; Broad Institute; Rosetrees Trust; Brain Research UK; Qatar National Research Fund; European Cooperation in Science and Technology; National Human Genome Research Institute; Wellcome Trust; March of Dimes Foundation; Ataxia UK; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; U.S. Department of Veterans Affairs; ZonMw; Simons Foundation Autism Research Initiative; Medical Research Council; Howard Hughes Medical Institute","keywords":"Lissencephaly; Allele; Heterotopia (medicine); Biology; Genetics; Global developmental delay; Adenomatous polyposis coli; Cancer research; Neuroscience; Gene; Colorectal cancer; Phenotype; Cancer","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":[0.0001390442,0.00113817,0.0004141767,0.001206778,0.0004682024,0.0004149743,0.0005019078,0.0008008154,0.001855638],"category_scores_gemma":[0.0003461035,0.0004668443,0.000338561,0.000672449,0.0006321041,0.0001509098,0.0004849822,0.0007979734,0.0006959743],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004209141,"about_ca_system_score_gemma":0.000379647,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001428793,"about_ca_topic_score_gemma":0.002599556,"domain_scores_codex":[0.9997239,0.00003817852,0.00003664103,0.00005818615,0.0001087127,0.00003449915],"domain_scores_gemma":[0.9995552,0.0001186581,0.0001124777,0.00003527396,0.0000174862,0.00016083],"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":[0.000585345,0.0001685902,0.001462236,0.00004344975,0.00005757211,0.01062061,0.00004818456,0.000470425,0.9832746,0.0004113145,0.0003430129,0.002514574],"study_design_scores_gemma":[0.0004069931,0.0008916272,0.05555427,0.00003066715,0.0003168239,0.09621765,0.0002731101,0.01089346,0.8268462,0.0007649063,0.007720037,0.00008425384],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949481,0.0004361307,0.001729508,0.0001210281,0.00006194646,0.00002249963,0.0005251847,0.0002303588,0.001925258],"genre_scores_gemma":[0.9953617,0.000334674,0.001015408,0.00006065555,0.00001805047,0.00001893275,0.0005014196,0.00008279963,0.002606373],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001855638,"threshold_uncertainty_score":0.006207764,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008477698949852404,"score_gpt":0.2611540085607791,"score_spread":0.2526763096109267,"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."}}