{"id":"W3151814574","doi":"10.1111/epi.16854","title":"Diverse genetic causes of polymicrogyria with epilepsy","year":2021,"lang":"en","type":"article","venue":"Epilepsia","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Weill Institute for Neurosciences, University of California, San Francisco; National Center for Advancing Translational Sciences; National Institute of Child Health and Human Development; National Institute of Allergy and Infectious Diseases; National Human Genome Research Institute; National Institute of Mental Health; NHLBI Division of Intramural Research; National Institute on Aging; Patient-Centered Outcomes Research Institute; Medical Research Council; Eunice Kennedy Shriver National Institute of Child Health and Human Development; University of California, San Francisco; Bill and Melinda Gates Foundation; University of Washington; Università degli Studi di Firenze; University of California, Los Angeles; School of Medicine, Emory University; Perelman School of Medicine, University of Pennsylvania; School of Medicine, New York University; Centers for Disease Control and Prevention; National Institutes of Health; Monash University; Pediatric Epilepsy Research Foundation; Endocrine Fellows Foundation; J. Willard and Alice S. Marriott Foundation; Multidisciplinary University Research Initiative; National Institute of Neurological Disorders and Stroke; Zynerba Pharmaceuticals; McGill University; Zogenix; University of North Carolina at Chapel Hill; Seqirus; UCLA Health System; Eisai; Cincinnati Children's Hospital Medical Center; Irving Medical Center, Columbia University; Yale University; Cure Kids; Emory University; York University; Biogen; Vanderbilt University; National Institute of Diabetes and Digestive and Kidney Diseases; Gilead Sciences; Health Research Council of New Zealand; Epilepsiatutkimussäätiö; Vanderbilt University Medical Center; Muscular Dystrophy Association; Children's Hospital of Philadelphia; AstraZeneca; GW Pharmaceuticals; University of Pennsylvania; Johns Hopkins University; Imperial College London; Northwell Health; Ellison Medical Foundation; National Science Foundation","keywords":"Polymicrogyria; Genetics; Biology; Epilepsy; Exome sequencing; Germline; Macrocephaly; Exome; Candidate gene; Copy-number variation; Single-nucleotide polymorphism; Gene; Haploinsufficiency; Phenotype; Genome; Genotype; Neuroscience","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000279517,0.0007529886,0.0003875387,0.0008793054,0.0004410433,0.0002583646,0.0003710261,0.0004268759,0.002723437],"category_scores_gemma":[0.001088092,0.0001514023,0.0003078552,0.0009158363,0.0004297819,0.0002332099,0.0007148311,0.0002696385,0.0002473324],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001874345,"about_ca_system_score_gemma":0.0002609392,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008163187,"about_ca_topic_score_gemma":0.00128034,"domain_scores_codex":[0.9996482,0.00005479228,0.00004140816,0.000132126,0.00006743064,0.00005611711],"domain_scores_gemma":[0.9995833,0.0001037752,0.000199279,0.00003136599,0.00003475679,0.00004753395],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002988538,0.00005683102,0.9494906,0.0000698683,0.0002397358,0.0241002,0.0002439944,0.0002824975,0.01548607,0.0002713675,0.0003076531,0.009152372],"study_design_scores_gemma":[0.00004304198,0.0001442897,0.9138679,0.00003681319,0.0001380512,0.08230218,0.0002178612,0.0003505706,0.001791695,0.0003896275,0.0007069214,0.00001105341],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983712,0.0004101783,0.0003221502,0.0000823911,0.000003445935,0.00001549372,0.000199561,0.0000136804,0.0005819236],"genre_scores_gemma":[0.9990605,0.0002310104,0.0002777053,0.0000487034,0.00001334748,0.000007847904,0.0002334005,0.000005266513,0.0001223523],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002723437,"threshold_uncertainty_score":0.009110749,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01985507184112601,"score_gpt":0.2850408942801413,"score_spread":0.2651858224390153,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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