{"id":"W4408694309","doi":"10.1016/j.gimo.2025.103425","title":"Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"University of Colorado School of Medicine, Anschutz Medical Campus; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Texas Children's Hospital; National Human Genome Research Institute; Hospital for Sick Children; Great Ormond Street Institute of Child Health; Oxford University Hospitals NHS Foundation Trust; Great Ormond Street Hospital for Children; Tel Aviv University; Seoul National University; National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; Children's Hospital of Philadelphia; Lunds Universitet; Chungbuk National University; Quest Diagnostics; Centre National de la Recherche Scientifique; NIHR Great Ormond Street Hospital Biomedical Research Centre; Seoul National University Hospital; Nationwide Children's Hospital; University Hospital Southampton NHS Foundation Trust; University of Oxford; College of Medicine, Seoul National University; Institut National de la Santé et de la Recherche Médicale; Kaiser Permanente","keywords":"Neurodevelopmental disorder; Neuroscience; Psychology; Medicine; Developmental psychology","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":[0.00017746,0.000359021,0.0001986079,0.0005006865,0.0001835711,0.0002800814,0.0003539162,0.0002411162,0.001395718],"category_scores_gemma":[0.0008465452,0.00007266125,0.0001087527,0.0003854798,0.000274908,0.0002052105,0.0002704851,0.0001978323,0.0003511702],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002274949,"about_ca_system_score_gemma":0.0003239472,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001226597,"about_ca_topic_score_gemma":0.002388921,"domain_scores_codex":[0.9999014,0.00001510506,0.00002042322,0.00002294462,0.00002493108,0.00001525609],"domain_scores_gemma":[0.9997479,0.00006298238,0.0001195328,0.000009678301,0.00002946491,0.00003040214],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0007613862,0.0001315719,0.372244,0.002665588,0.0002614595,0.2772427,0.0004928326,0.0005937029,0.09857358,0.002969104,0.009532505,0.2345317],"study_design_scores_gemma":[0.00005178373,0.0002342403,0.3000067,0.0007445533,0.0001916929,0.6272008,0.0003997465,0.0006686882,0.02661347,0.001456076,0.04239653,0.00003581321],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9259124,0.05623212,0.005157906,0.001679977,0.000349101,0.00006310536,0.002366767,0.000190622,0.008048079],"genre_scores_gemma":[0.9868259,0.007767028,0.002508882,0.0003060703,0.0000704067,0.000008853541,0.000921298,0.00001323872,0.001578311],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001395718,"threshold_uncertainty_score":0.004669189,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009116220133465787,"score_gpt":0.2999769854427629,"score_spread":0.2908607653092971,"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."}}