{"id":"W3200821844","doi":"10.1002/ajmg.a.62494","title":"A <i>de novo</i><scp><i>CSDE1</i></scp> variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents","year":2021,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Eye Institute; Medical Research Council; Evelyn Trust; Horizon 2020 Framework Programme; Canadian Institutes of Health Research; H2020 European Research Council; Ataxia UK; Muscular Dystrophy Canada; Medical Research Council Canada; Newton Fund; Canada Foundation for Innovation; National Human Genome Research Institute; Wellcome Trust; French Muscular Dystrophy Association; European Regional Development Fund; Broad Institute","keywords":"Intellectual disability; Autism; Autism spectrum disorder; Neurodevelopmental disorder; Global developmental delay; Corpus callosum; Genetics; Phenotype; Gene; Medicine; Biology; Bioinformatics; Neuroscience; 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":[0.0001195916,0.001583555,0.0005397913,0.0009971358,0.001142341,0.0004478517,0.0007291079,0.001547484,0.001835238],"category_scores_gemma":[0.0008896214,0.0004195901,0.0006453666,0.00065529,0.0009618959,0.0004317659,0.0007881513,0.001380266,0.0004767074],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004901444,"about_ca_system_score_gemma":0.0003493218,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004578254,"about_ca_topic_score_gemma":0.004627901,"domain_scores_codex":[0.9997357,0.00001916527,0.00002918489,0.0001226734,0.00003432267,0.00005896027],"domain_scores_gemma":[0.9995421,0.0001268719,0.0001255047,0.00001965274,0.00002663147,0.000159178],"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":[0.00008134084,0.00004969331,0.01245427,0.00004433468,0.00002739676,0.9728442,0.0003675967,0.00007422381,0.01150764,0.0001583902,0.0004452864,0.001945652],"study_design_scores_gemma":[0.00001107817,0.0001776566,0.03464294,0.00002225719,0.00004648149,0.9603758,0.0002047455,0.0001563852,0.002601882,0.00009377653,0.001640925,0.00002603296],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9926108,0.001414726,0.001479484,0.001127239,0.0001945991,0.00007269453,0.0006108113,0.0001001984,0.002389576],"genre_scores_gemma":[0.9957682,0.0008552401,0.001088976,0.0004627306,0.0001429687,0.000020695,0.0003002216,0.00002885419,0.001332204],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004578254,"threshold_uncertainty_score":0.009103239,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00880102201814043,"score_gpt":0.2700849646844412,"score_spread":0.2612839426663007,"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."}}