{"id":"W4287832190","doi":"10.1002/mds.29147","title":"<i>MED27</i>, <i>SLC6A7,</i> and <i>MPPE1</i> Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia","year":2022,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"National Cancer Institute; National Medical Research Council; Medical Research Council; Canadian Institutes of Health Research; Medical Research Council Canada; NIHR Cambridge Biomedical Research Centre; Rosetrees Trust; National Institutes of Health; National Health and Medical Research Council; University of Cambridge; NBIA Disorders Association; National Institute for Health and Care Research; Sir Jules Thorn Charitable Trust; T.L.L Temple Foundation; Deutsche Forschungsgemeinschaft; UK Research and Innovation; Wellcome Trust","keywords":"Zebrafish; Exome sequencing; Dystonia; Phenotype; Neurodevelopmental disorder; Biology; Candidate gene; Intellectual disability; Genetics; Movement disorders; Epilepsy; Gene knockdown; Gene; Disease; Neuroscience; Medicine; Internal medicine","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":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0002383772,0.0004630568,0.0003818573,0.0002164749,0.0006388429,0.00007565511,0.0006032063,0.000053502,0.001126147],"category_scores_gemma":[0.00008909909,0.0004350047,0.00006133666,0.00101407,0.0003114001,0.0003180724,0.0007659037,0.0005999334,0.00002416128],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001173293,"about_ca_system_score_gemma":0.00008450886,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003386874,"about_ca_topic_score_gemma":0.00108727,"domain_scores_codex":[0.9960237,0.0004478794,0.0004741859,0.001249737,0.0008923818,0.0009121607],"domain_scores_gemma":[0.9990525,0.0001998606,0.0001387158,0.0004084821,0.00001131834,0.000189092],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003636964,0.01010599,0.6714915,0.0003012188,0.0001182883,0.001984247,0.006062292,0.03220442,0.1660954,0.01898257,0.04809191,0.04092518],"study_design_scores_gemma":[0.02618386,0.005784399,0.6665746,0.00004770335,0.00007426235,0.0001461394,0.00690164,0.008989109,0.0013972,0.04137691,0.2380365,0.004487713],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9734106,0.00008019513,0.00008365935,0.008606818,0.0002206739,0.001327186,0.0001501679,0.0001977703,0.01592294],"genre_scores_gemma":[0.9473944,0.0001326741,0.0001509737,0.05144046,0.00001099273,0.0004272696,0.00003772931,0.00007076765,0.0003347302],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1899446,"threshold_uncertainty_score":0.9998102,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01577407134726069,"score_gpt":0.2147106315301997,"score_spread":0.198936560182939,"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."}}