{"id":"W2912876039","doi":"10.1093/brain/awy346","title":"PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights","year":2018,"lang":"en","type":"article","venue":"Brain","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":90,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; McGill University; Children's Hospital of Eastern Ontario; University of Calgary; BC Children's Hospital; McGill University and Génome Québec Innovation Centre; University of British Columbia; University of Ottawa","funders":"Ministry of Higher Education; Michael Smith Health Research BC; Stichting Metakids; Canadian Institutes of Health Research; National Institute of Neurological Disorders and Stroke; Children's Hospital of Eastern Ontario Foundation; Genome Canada; National Ataxia Foundation; Ontario Genomics; Genome British Columbia; Rare Disease Foundation; Children's Hospital Foundation","keywords":"Biology; Phenotype; Epilepsy; Disease; Zebrafish; Encephalopathy; Status epilepticus; Genetics; Bioinformatics; Internal medicine; Medicine; Neuroscience; Gene","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":[0.0001179625,0.0008583897,0.0002555514,0.0004217755,0.0001687255,0.0002285324,0.0001802442,0.0005828664,0.001080486],"category_scores_gemma":[0.0001670139,0.0001593825,0.0001527309,0.0001811971,0.0005097251,0.0003690715,0.0003563109,0.000467961,0.0001801975],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002248207,"about_ca_system_score_gemma":0.0002523743,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009826804,"about_ca_topic_score_gemma":0.001079674,"domain_scores_codex":[0.9999405,0.0000059454,0.000009526417,0.00002098397,0.0000149052,0.000008148524],"domain_scores_gemma":[0.9999317,0.0000130097,0.00002318972,0.000003892812,0.000006456323,0.00002174189],"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":[0.001200167,0.0001186704,0.05410882,0.0005171807,0.00004695803,0.0804984,0.0004121324,0.0007858207,0.8251051,0.001095235,0.0007905615,0.03532105],"study_design_scores_gemma":[0.0002162196,0.002067743,0.2893585,0.0002699948,0.0002484025,0.470814,0.0008524099,0.005147273,0.2096114,0.002324499,0.01900576,0.00008382479],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9861794,0.003903635,0.005491725,0.0008059571,0.00002032869,0.00005802166,0.001006579,0.0001508865,0.002383398],"genre_scores_gemma":[0.9927958,0.002639779,0.003179819,0.0001288885,0.00002717817,0.00002246363,0.0004488223,0.0000176059,0.0007396623],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001080486,"threshold_uncertainty_score":0.003614604,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01363615090122671,"score_gpt":0.2881631684588777,"score_spread":0.274527017557651,"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."}}