{"id":"W3095492156","doi":"10.1038/s41436-020-00988-9","title":"NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns","year":2020,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":56,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital; University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; National Health and Medical Research Council; Fondazione Pisa; Regione Toscana; Medical Research Council; GW Research; Epilepsy Research Program of the Ontario Brain Institute; Vlaamse regering; Ultragenyx Pharmaceutical; Fondazione Pierfranco e Luisa Mariani; Eisai; UCB Pharma; Cure Kids; National Institutes of Health; Ministero della Salute; Epilepsy Research UK; State Government of Victoria; GlaxoSmithKline; LivaNova; Marinus Pharmaceuticals; Australian Government; Zynerba Pharmaceuticals; GW Pharmaceuticals; Zogenix; March of Dimes Foundation; Health Research Council of New Zealand; Dravet Syndrome UK","keywords":"Phenotype; Encephalopathy; Genetics; Medicine; Biology; Internal medicine; Gene","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":[],"consensus_categories":[],"category_scores_codex":[0.00008578046,0.0001967044,0.0001862846,0.00003774303,0.00004890384,0.00001207927,0.0001860339,0.00008323768,0.00006932862],"category_scores_gemma":[0.00003066618,0.0001650069,0.00001395709,0.0001233126,0.0001480193,0.000002980225,0.0001088313,0.0001099996,0.000003426922],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004256353,"about_ca_system_score_gemma":0.00003909682,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002660954,"about_ca_topic_score_gemma":0.0003203214,"domain_scores_codex":[0.998818,0.00004453875,0.0002150806,0.0004968304,0.0001710636,0.0002544554],"domain_scores_gemma":[0.9994786,0.000006649092,0.00005054565,0.0002371935,0.00003706003,0.000189998],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002017044,0.0001100985,0.6051221,0.0000929247,0.00002956495,0.0000364603,0.002232919,0.0006039349,0.371087,0.00005425128,0.0001787092,0.02025028],"study_design_scores_gemma":[0.003767258,0.003583221,0.9625391,0.00006117884,0.00003837634,0.00003928575,0.002719309,0.0009441171,0.00985437,0.0000850913,0.0158029,0.0005658008],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945197,0.002134411,0.001575865,0.0009073319,0.00006094428,0.0002320606,0.00000809239,0.000008896602,0.0005527178],"genre_scores_gemma":[0.9938866,0.00223234,0.001395099,0.002152762,0.00009441203,0.00001841388,0.0001100633,0.00003368186,0.00007661991],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3612326,"threshold_uncertainty_score":0.6728785,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01706733972240813,"score_gpt":0.2488989741815306,"score_spread":0.2318316344591225,"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."}}