{"id":"W2016910640","doi":"10.1038/ng.2331","title":"De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes","year":2012,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":753,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ottawa Hospital; North York General Hospital; Hospital for Sick Children; University of British Columbia; McGill University and Génome Québec Innovation Centre; University of Ottawa; Queen's University; McGill University; University of Calgary; Children's Hospital of Eastern Ontario","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; McGill University; National Heart, Lung, and Blood Institute; National Institute of Environmental Health Sciences; Canadian Institutes of Health Research; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Cancer Research UK","keywords":"Megalencephaly; Biology; Polymicrogyria; Exome sequencing; Genetics; Polydactyly; Context (archaeology); Sanger sequencing; Exome; Mutation; Gene; Neuroscience; Epilepsy","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005595570676620725,"score_gpt":0.2528660547956109,"score_spread":0.2472704841189902,"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."}}