{"id":"W4406804310","doi":"10.1002/mds.30101","title":"Disco‐Interacting Protein 2 Homolog B <scp>CGG</scp> Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder","year":2025,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Toronto; BC Children's Hospital; Hospital for Sick Children; University of British Columbia","funders":"Hospital for Sick Children; Canadian Institutes of Health Research; Azrieli Foundation; University of Toronto; Department of Health and Social Care; Cancer Research UK; Genome British Columbia; Canada's Michael Smith Genome Sciences Centre; National Institute for Health and Care Research; Genome Canada; Medical Research Council; Children’s Hospital of Wisconsin Research Institute; Wellcome Trust; Fondation Brain Canada","keywords":"Trinucleotide repeat expansion; Phenotype; Genetics; Chorea; Dystonia; Movement disorders; Ataxia; Biology; Medicine; Neuroscience; Gene; Allele; Disease; Internal medicine","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":[0.000241879,0.0006471614,0.0002656968,0.0005541988,0.0008127359,0.0002627148,0.0003289572,0.000661189,0.002255868],"category_scores_gemma":[0.001003116,0.0002363865,0.0001870238,0.0003033804,0.0004688138,0.0002260929,0.0005608404,0.0004880583,0.0002724937],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005040581,"about_ca_system_score_gemma":0.0004944854,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005147459,"about_ca_topic_score_gemma":0.00674088,"domain_scores_codex":[0.9997531,0.00003574247,0.00002352177,0.00007249569,0.00007858713,0.00003668171],"domain_scores_gemma":[0.999712,0.00004651202,0.00008585938,0.0000120021,0.00002686257,0.0001167563],"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":[0.000291734,0.0001470549,0.3768904,0.0000984339,0.00008866915,0.5812782,0.002138159,0.0003747638,0.02633046,0.0007226768,0.00244602,0.009193407],"study_design_scores_gemma":[0.00004096565,0.0002873227,0.4090801,0.00006585466,0.0000642943,0.5820929,0.0008003868,0.0009482822,0.004441853,0.0004642214,0.001687863,0.00002597214],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972376,0.0002381974,0.000323535,0.0002995136,0.00001758564,0.00002569989,0.0001640821,0.00002316435,0.00167065],"genre_scores_gemma":[0.9991216,0.000100051,0.0002769286,0.00009123751,0.00001081472,0.000005284636,0.0000784013,0.000006135619,0.0003095132],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005147459,"threshold_uncertainty_score":0.01023501,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009066361253357514,"score_gpt":0.2535329774293823,"score_spread":0.2444666161760248,"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."}}