{"id":"W4405538799","doi":"10.1093/brain/awae363","title":"Clinical and genetic characterization of a progressive <i>RBL2</i>-associated neurodevelopmental disorder","year":2024,"lang":"en","type":"article","venue":"Brain","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"NIHR Sheffield Biomedical Research Centre; Medical Research Council; Manchester Biomedical Research Centre; National Institutes of Health; Cerebral Palsy Alliance; Seventh Framework Programme; University College London; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; Multiple System Atrophy Coalition; Wellcome Trust; Pakistan Science Foundation; University College London Hospitals NHS Foundation Trust; Rosetrees Trust; European Commission; Medical Research Council Canada; Fidelity Foundation; Centro Singular de Investigación de Galicia; Friedreich's Ataxia Research Alliance; Guarantors of Brain; Michael J. Fox Foundation for Parkinson's Research","keywords":"Microcephaly; Biology; Hypotonia; Intellectual disability; Corpus callosum; Phenotype; Global developmental delay; Loss function; Atrophy; Genetics; Drosophila melanogaster; Neurodevelopmental disorder; Hypoplasia; Neuroscience; Gene; Anatomy","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002253714,0.001029361,0.0003981776,0.0008064509,0.000520483,0.0003281022,0.0003425696,0.0005433438,0.001198233],"category_scores_gemma":[0.0007656994,0.000224111,0.0002294896,0.0004324457,0.0007739058,0.0002181287,0.00044147,0.0003635648,0.0002800603],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003261658,"about_ca_system_score_gemma":0.0004672688,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003315891,"about_ca_topic_score_gemma":0.002910094,"domain_scores_codex":[0.9997713,0.00002035333,0.00002815754,0.000090414,0.00005114582,0.00003874244],"domain_scores_gemma":[0.9996904,0.00005634858,0.00008242471,0.00001484049,0.00003510856,0.0001208079],"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":[0.000712458,0.000365809,0.3757416,0.0001813066,0.000114387,0.366442,0.001075653,0.001002436,0.227805,0.001046712,0.001487048,0.02402558],"study_design_scores_gemma":[0.00004977679,0.000723821,0.46695,0.00003018407,0.00008067452,0.5197069,0.000275799,0.000966921,0.008106813,0.0002010559,0.002878579,0.00002939361],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969524,0.0002860024,0.0004679942,0.00009220924,0.000006397905,0.00004487243,0.0003095212,0.00003505303,0.001805467],"genre_scores_gemma":[0.998322,0.0002021913,0.000611464,0.0000813814,0.00001657841,0.00001697217,0.0002822333,0.00001009363,0.0004572538],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003315891,"threshold_uncertainty_score":0.006593168,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008015445152744832,"score_gpt":0.26105713552823,"score_spread":0.2530416903754851,"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."}}