{"id":"W3215011464","doi":"10.1016/j.ajhg.2021.11.003","title":"Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia","year":2021,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University","funders":"National Center for Advancing Translational Sciences; Ataxia UK; Medical Research Council; Department of Forestry and Natural Resources, Purdue University; Intellectual and Developmental Disabilities Research Center; Rosetrees Trust; National Institutes of Health; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Bundesministerium für Bildung und Forschung; Great Ormond Street Hospital Charity; National Institute for Health and Care Research; Wellcome Trust; University College London; UCLH Biomedical Research Centre; California Department of Fish and Game; Deutsche Forschungsgemeinschaft; Muscular Dystrophy UK; Virginia Marine Resources Commission; Brain Research UK; Multiple System Atrophy Trust; National Human Genome Research Institute; Muscular Dystrophy Association; Presbyterian Health Foundation","keywords":"Biology; Frameshift mutation; Microcephaly; Genetics; Hearing loss; Ataxia; Missense mutation; Allele; Exon; Phenotype; Gene; Medicine; Neuroscience","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":[0.0002181354,0.001991979,0.0003843874,0.001037987,0.000707618,0.0005164957,0.0005394089,0.001304923,0.002604005],"category_scores_gemma":[0.0007016159,0.0002967533,0.000342093,0.001032777,0.0006428047,0.0003671513,0.0009445857,0.0006354107,0.0006737753],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004385589,"about_ca_system_score_gemma":0.0002984879,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00236958,"about_ca_topic_score_gemma":0.005176586,"domain_scores_codex":[0.9997061,0.00003366141,0.00005234007,0.00006729372,0.00009373212,0.00004677304],"domain_scores_gemma":[0.999447,0.0001078276,0.0001793199,0.00002495357,0.00004420189,0.0001966246],"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":[0.002756669,0.0003935164,0.1787076,0.0001901965,0.000510646,0.3944669,0.001291135,0.0006649128,0.39353,0.002434112,0.0029365,0.02211794],"study_design_scores_gemma":[0.00026967,0.0006821331,0.4942306,0.00009081807,0.0004002519,0.4604646,0.001319869,0.002233946,0.03074685,0.002237239,0.007208975,0.0001150777],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949791,0.0004312148,0.001020153,0.0004632024,0.00007041576,0.00003407426,0.0006655472,0.00006371753,0.002272577],"genre_scores_gemma":[0.9982692,0.00009511343,0.0006082625,0.0001403581,0.00003099154,0.000005996489,0.0002803683,0.00002509886,0.0005447238],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002604005,"threshold_uncertainty_score":0.008711278,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01408066078505091,"score_gpt":0.2728532191530649,"score_spread":0.258772558368014,"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."}}