{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005518851,0.0001100174,0.00007998708,0.00001277971,0.00006874098,0.0000296921,0.00004239162,0.0000596141,0.00002600957],"category_scores_gemma":[0.00001974614,0.0001019553,0.00002222062,0.00006633531,0.00004353933,0.000003501934,0.00003167383,0.00006069426,0.000001740408],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000435072,"about_ca_system_score_gemma":0.0001078047,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001059723,"about_ca_topic_score_gemma":0.0002916809,"domain_scores_codex":[0.9993379,0.00004395428,0.00008667027,0.0003008292,0.00007057295,0.0001601436],"domain_scores_gemma":[0.9997334,0.000006054296,0.00002154398,0.0001386839,0.00003421507,0.00006612069],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00006277298,0.00004939678,0.01272015,0.000009237218,0.00003215878,0.0002407567,0.0001877575,0.00002499588,0.9856141,0.000154816,0.0001662731,0.00073757],"study_design_scores_gemma":[0.003651154,0.0005435,0.2324539,0.000029861,0.00007308713,0.001709666,0.000358211,0.0002296518,0.465659,0.00006032168,0.294438,0.0007936619],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9882401,0.0003558366,0.01002178,0.0006487549,0.00004753759,0.0000775017,0.00001929082,0.000009156182,0.0005800996],"genre_scores_gemma":[0.9945407,0.0001137375,0.0008520037,0.001536246,0.00006435143,0.00001014125,0.001124596,0.00002147508,0.001736767],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5199551,"threshold_uncertainty_score":0.4157615,"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."}}