{"id":"W3191139421","doi":"10.1093/brain/awab299","title":"<i>De novo DHDDS</i> variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus","year":2021,"lang":"en","type":"article","venue":"Brain","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Montreal Neurological Institute and Hospital; Children's Hospital of Eastern Ontario; McGill University","funders":"Common Fund; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; ZonMw; National Institute of Diabetes and Digestive and Kidney Diseases; Ministero della Salute; National Heart, Lung, and Blood Institute; National Institutes of Health; Parkinson Canada; Ministero dell’Istruzione, dell’Università e della Ricerca; E-Rare; Agence Nationale de la Recherche; Dipartimenti di Eccellenza","keywords":"Dolichol; Retinitis pigmentosa; Neurodevelopmental disorder; Ataxia; Biology; Dystonia; Myoclonus; Internal medicine; Genetics; Neuroscience; Medicine; Biochemistry; Enzyme; Biosynthesis; Retina","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":[0.0001049706,0.0008762013,0.000361643,0.0005987615,0.0003342136,0.0003227616,0.000242331,0.0004088367,0.001722734],"category_scores_gemma":[0.000563862,0.0001380398,0.0002758803,0.0005023477,0.000384866,0.000139348,0.0002774466,0.0002701758,0.0004294616],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000316701,"about_ca_system_score_gemma":0.0001858219,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002130192,"about_ca_topic_score_gemma":0.001821036,"domain_scores_codex":[0.9998224,0.00001422327,0.00003249169,0.0000749566,0.0000296468,0.00002620808],"domain_scores_gemma":[0.9997814,0.00004228071,0.00008699672,0.0000176488,0.00002888352,0.00004279575],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001564308,0.0002232017,0.4753727,0.000271985,0.0003792404,0.2081026,0.0006207557,0.0006207938,0.2706726,0.0007049287,0.002924257,0.03854259],"study_design_scores_gemma":[0.00006539849,0.0007099738,0.5824673,0.00007206984,0.0002319931,0.3598271,0.0003014821,0.0007486666,0.04359471,0.0004332764,0.01151096,0.00003706637],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943256,0.001050243,0.0009766383,0.000110551,0.0000247292,0.00003880533,0.001498021,0.00008646415,0.001888975],"genre_scores_gemma":[0.9967475,0.0003437334,0.0006211002,0.00007861373,0.00003160419,0.000009814864,0.001184664,0.00001957168,0.0009633701],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002130192,"threshold_uncertainty_score":0.005763054,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00604143321034378,"score_gpt":0.2026372325686253,"score_spread":0.1965957993582815,"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."}}