{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001913136,0.0009767783,0.0003913236,0.0006060558,0.0002272682,0.0002272571,0.000197279,0.0004820473,0.001616572],"category_scores_gemma":[0.0005123648,0.0001435331,0.0003322997,0.0003173829,0.0004794585,0.0001538147,0.0003854904,0.0002073826,0.0001636891],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000167842,"about_ca_system_score_gemma":0.0001475379,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007821218,"about_ca_topic_score_gemma":0.001327736,"domain_scores_codex":[0.9997258,0.00002616814,0.00003773718,0.0001198553,0.00005385016,0.00003649637],"domain_scores_gemma":[0.9997929,0.00007055018,0.00008627214,0.00001798125,0.00001080479,0.00002145626],"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":[0.001340841,0.00005963907,0.2205416,0.0001911729,0.0005279537,0.02490183,0.0003828514,0.0007066504,0.7217624,0.001116524,0.0004269884,0.02804151],"study_design_scores_gemma":[0.00007299363,0.0004083167,0.8180351,0.00005054424,0.0003646978,0.07993931,0.0002963744,0.001132222,0.09488893,0.001711429,0.003067933,0.0000322041],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971797,0.0005612507,0.001124015,0.00004388596,0.000005981953,0.000007465848,0.0004674052,0.00003607036,0.0005741342],"genre_scores_gemma":[0.9983984,0.0002671426,0.0008041462,0.00002581586,0.00000687925,0.000006222945,0.0002823503,0.00001014422,0.0001988743],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001616572,"threshold_uncertainty_score":0.005407929,"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."}}