{"id":"W2962917566","doi":"10.1093/brain/awz198","title":"Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size","year":2019,"lang":"en","type":"article","venue":"Brain","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; Holland Bloorview Kids Rehabilitation Hospital; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Human Genome Research Institute; Shriners Hospitals for Children; Hospital for Sick Children; National Institute of Mental Health; Canadian Institutes of Health Research; Autism Speaks; University of Toronto; University of Alabama at Birmingham; Nancy Lurie Marks Family Foundation; GlaxoSmithKline; National Institute of Environmental Health Sciences; Simons Foundation; OPKO Health","keywords":"Macrocephaly; Microcephaly; Neurodevelopmental disorder; Intellectual disability; Missense mutation; Autism; Proband; Biology; Exome sequencing; Wnt signaling pathway; Phenotype; Haploinsufficiency; Genetics; Loss function; Neuroscience; Mutation; Medicine; Gene; Psychiatry","routes":{"ca_aff":true,"ca_fund":true,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000135715,0.0002489397,0.000153505,0.00004471889,0.00009764287,0.00004416028,0.0001551121,0.0001144958,0.00002831611],"category_scores_gemma":[0.0002445763,0.000254089,0.00005873246,0.00009058028,0.00004249785,0.000004858075,0.0001855639,0.0001011135,0.0000526819],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001173931,"about_ca_system_score_gemma":0.00006102643,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006298498,"about_ca_topic_score_gemma":0.00002828296,"domain_scores_codex":[0.9986342,0.0001002966,0.0001723454,0.0005949587,0.0001549517,0.0003432737],"domain_scores_gemma":[0.999397,0.0001407625,0.00005383742,0.0002761958,0.00001270229,0.0001194729],"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":[0.00007361032,0.00006175139,0.008623176,0.0000382862,0.00004053344,0.000008177163,0.00009041758,0.00001343325,0.9718674,0.00004565035,0.003892115,0.01524541],"study_design_scores_gemma":[0.002618976,0.0009194724,0.8939505,0.00004846339,0.00001489005,0.00003797744,0.0000805959,0.00005959093,0.06857462,0.0001883645,0.03281777,0.0006888393],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957458,0.0001818692,0.00003532832,0.001837465,0.0003109532,0.0004363454,0.00001287721,0.00001822512,0.001421102],"genre_scores_gemma":[0.9903913,0.0001684128,0.0003910271,0.00721969,0.00002340656,0.00001923595,0.0000548964,0.00005099485,0.001681044],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9032928,"threshold_uncertainty_score":0.9999911,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004706570764225983,"score_gpt":0.2122925116447524,"score_spread":0.2075859408805265,"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."}}