{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001512687,0.0005954547,0.000409901,0.00128203,0.0007471986,0.0004618013,0.0005082411,0.001396678,0.006150762],"category_scores_gemma":[0.0008981905,0.0001569662,0.0002111249,0.0007305326,0.0008355054,0.0004721379,0.0005716537,0.0006497158,0.0003511643],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004300743,"about_ca_system_score_gemma":0.0004097422,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002398832,"about_ca_topic_score_gemma":0.002815277,"domain_scores_codex":[0.9998659,0.00001763956,0.00001108119,0.00003442005,0.00002494665,0.00004607036],"domain_scores_gemma":[0.9994667,0.0002161808,0.0001392711,0.0000270086,0.00004199947,0.0001087852],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005968709,0.0001234283,0.1129891,0.0002262465,0.0001186008,0.7631422,0.0007074211,0.0009473344,0.08112784,0.01298894,0.001839304,0.02519264],"study_design_scores_gemma":[0.00005979,0.0001674743,0.1357715,0.0001716225,0.0001373011,0.8314871,0.0006593769,0.002307259,0.01336877,0.007757846,0.008071786,0.00004016887],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9714924,0.004717526,0.002494131,0.00171798,0.0000705945,0.00002307487,0.0002948512,0.00008635489,0.01910313],"genre_scores_gemma":[0.9973909,0.0006798829,0.0009594626,0.0001534827,0.00006371702,0.000004549554,0.00007174871,0.000008528592,0.0006677219],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006150762,"threshold_uncertainty_score":0.0205763,"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."}}