{"id":"W2116232642","doi":"10.1542/peds.2015-0750","title":"Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay","year":2015,"lang":"en","type":"article","venue":"PEDIATRICS","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Pathognomonic; Medicine; Parkinsonism; Neurodegeneration; Pediatrics; Dementia; Cognition; Mutation; Disease; Genetics; Psychiatry; Pathology; Gene","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":[0.0001758686,0.001187444,0.0008657611,0.001809272,0.001090649,0.0005647121,0.0007923174,0.002109071,0.00167039],"category_scores_gemma":[0.0009577625,0.0005468094,0.0004904236,0.0006859109,0.0007640896,0.0008567358,0.0008681006,0.001226662,0.0003694767],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007355241,"about_ca_system_score_gemma":0.0007087651,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003680142,"about_ca_topic_score_gemma":0.004081331,"domain_scores_codex":[0.9997557,0.00001489355,0.00002425369,0.00009201785,0.00004333747,0.000069748],"domain_scores_gemma":[0.9995419,0.0000845641,0.00009154395,0.00001281653,0.00003827889,0.0002309801],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0000194786,0.00002946936,0.007407897,0.00001394628,0.000004181191,0.9895304,0.0001533891,0.00004651504,0.001753893,0.0001192053,0.0001705522,0.0007509575],"study_design_scores_gemma":[0.000006982385,0.00007644301,0.0124626,0.00001325148,0.00001156433,0.9859151,0.0001076849,0.0002046851,0.0006970572,0.00008325402,0.0004116614,0.000009680279],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9907815,0.001357394,0.0016276,0.001418779,0.0001129761,0.00008311108,0.0003348418,0.0001033676,0.004180431],"genre_scores_gemma":[0.996663,0.0007921869,0.00115118,0.0003168361,0.000146205,0.00001757819,0.0001030904,0.00001813836,0.0007916642],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003680142,"threshold_uncertainty_score":0.007317424,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04179180557166921,"score_gpt":0.2758355994115042,"score_spread":0.2340437938398349,"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."}}