{"id":"W4319993262","doi":"10.1016/j.pediatrneurol.2023.01.011","title":"The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome","year":2023,"lang":"en","type":"article","venue":"Pediatric Neurology","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":17,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; McGill University Health Centre","funders":"Fonds de Recherche du Québec - Santé; U.S. Food and Drug Administration; Canadian Institutes of Health Research; KWF Kankerbestrijding; Compute Canada; Oncode Institute; McGill University; Takeda Pharmaceuticals U.S.A.","keywords":"Cockayne syndrome; OMIM : Online Mendelian Inheritance in Man; Phenotype; Genetics; Biology; Microcephaly; DNA repair; Autism spectrum disorder; Nucleotide excision repair; Bioinformatics; Autism; Medicine; Gene; Psychiatry","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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.000309896,0.0002532954,0.0003304541,0.0003453159,0.0002858525,0.00002598793,0.0009901634,0.0001917257,0.0001523016],"category_scores_gemma":[0.002116644,0.0001941478,0.0001609776,0.002564544,0.0002736511,0.0000848472,0.0004968808,0.0006095106,0.001529066],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006121953,"about_ca_system_score_gemma":0.00005412025,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003012243,"about_ca_topic_score_gemma":0.00002200836,"domain_scores_codex":[0.9967191,0.0005426636,0.0005724779,0.0007998451,0.0004436504,0.0009223223],"domain_scores_gemma":[0.9973395,0.001674629,0.0001701943,0.000592677,0.00002075483,0.0002022019],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.009710893,0.00461922,0.1961659,0.0007500292,0.0003238783,0.03388462,0.002988041,0.1819798,0.2530382,0.05912692,0.1908512,0.06656138],"study_design_scores_gemma":[0.004701149,0.01549988,0.7714776,0.000004630889,0.0002776058,0.001492182,0.00004958505,0.0171704,0.002519935,0.1419997,0.04306658,0.001740737],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9293744,0.0000632748,0.00004021463,0.06682452,0.001891047,0.0005578041,0.00003177534,0.0004070753,0.0008098789],"genre_scores_gemma":[0.9959755,0.0009826856,0.000004581419,0.002487437,0.0002006666,0.00005184495,0.000003733079,0.00004629625,0.0002472488],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5753117,"threshold_uncertainty_score":0.9992484,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0115942641367858,"score_gpt":0.2354713913196583,"score_spread":0.2238771271828725,"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."}}