{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001511285,0.001168575,0.0003134054,0.0008925003,0.0005976389,0.0003486342,0.0003668003,0.0009951517,0.001688387],"category_scores_gemma":[0.0005323825,0.0002502521,0.0005199802,0.0004977085,0.0007538982,0.0002410682,0.0004812405,0.0004813656,0.0002782179],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003842422,"about_ca_system_score_gemma":0.0003170841,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001861416,"about_ca_topic_score_gemma":0.002394805,"domain_scores_codex":[0.9998159,0.00001662697,0.00002355989,0.00007544176,0.00003770094,0.00003080432],"domain_scores_gemma":[0.9997436,0.00008998142,0.00007789174,0.00001355145,0.00001726219,0.000057564],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000601881,0.0001006317,0.1855647,0.0001504039,0.0001698825,0.5359569,0.001159516,0.00112345,0.2635434,0.0008810813,0.0008946458,0.009853613],"study_design_scores_gemma":[0.00006014179,0.0003002857,0.2287952,0.00006910998,0.0003704476,0.7049115,0.0005426412,0.002861355,0.05780711,0.0006138775,0.003621455,0.00004686863],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979355,0.0002768069,0.0007997592,0.0001318687,0.00001059756,0.00001360353,0.0001943016,0.00003859974,0.0005990245],"genre_scores_gemma":[0.9980533,0.0001600235,0.001233238,0.00007455473,0.00002126689,0.000006278625,0.0001429593,0.00001706129,0.0002912579],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001861416,"threshold_uncertainty_score":0.005648255,"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."}}