{"id":"W3113349967","doi":"10.1111/epi.16784","title":"<i>FBXO28</i> causes developmental and epileptic encephalopathy with profound intellectual disability","year":2020,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Children’s Health Foundation; National Institute of Neurological Disorders and Stroke; Health Research Council of New Zealand; National Health and Medical Research Council; Fondazione Telethon; Citizens United for Research in Epilepsy; March of Dimes Foundation","keywords":"Intellectual disability; Frameshift mutation; Epilepsy; Hypotonia; Microcephaly; Encephalopathy; Pediatrics; Lennox–Gastaut syndrome; Medicine; Movement disorders; Global developmental delay; Psychiatry; Disease; Genetics; Biology; Pathology; Phenotype","routes":{"ca_aff":true,"ca_fund":false,"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":[],"consensus_categories":[],"category_scores_codex":[0.00005025639,0.0001674293,0.0001388375,0.000008193912,0.00009925696,0.00003611689,0.000117297,0.0000591496,0.00009149211],"category_scores_gemma":[0.000133203,0.0001346884,0.00003770412,0.00007163708,0.0002510791,0.000004894485,0.0001402476,0.00007008662,0.00002530216],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001398075,"about_ca_system_score_gemma":0.00009550878,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007504688,"about_ca_topic_score_gemma":0.00002675033,"domain_scores_codex":[0.999097,0.00003486773,0.0001499246,0.0004174733,0.00009292337,0.0002078421],"domain_scores_gemma":[0.9995797,0.00002222338,0.00003746666,0.0001303403,0.00003432323,0.000195967],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001970936,0.0005833878,0.6541761,0.0003007034,0.0003837605,0.0001490692,0.005946224,0.00005258482,0.3100046,0.0003137196,0.01173218,0.01438679],"study_design_scores_gemma":[0.00595256,0.007043769,0.4460199,0.0001316939,0.0003246239,0.0007981079,0.00896801,0.000510051,0.2616976,0.000378882,0.2646469,0.003527876],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979789,0.0004577565,0.0002775349,0.0003495249,0.00003873728,0.0002181823,0.00003349982,0.00001807277,0.0006277779],"genre_scores_gemma":[0.9976799,0.0001319749,0.0009165881,0.000929605,0.0001513505,0.0000249712,0.0000881734,0.00002088299,0.00005653979],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2529147,"threshold_uncertainty_score":0.5492433,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01211729904997828,"score_gpt":0.2080856153625627,"score_spread":0.1959683163125845,"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."}}