{"id":"W2808326396","doi":"10.1016/j.ymgmr.2018.06.001","title":"De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome","year":2018,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; University of California, San Francisco; Intellectual and Developmental Disabilities Research Center; Boston Children's Hospital; National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Manton Center for Orphan Disease Research, Boston Children's Hospital; Tommy Fuss Fund","keywords":"Compound heterozygosity; Somnolence; Medicine; Dystonia; Genetics; Mutation; Autism spectrum disorder; Exome sequencing; Autism; Pediatrics; Bioinformatics; Internal medicine; Gene; Psychiatry; Biology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000268205,0.001889365,0.0005723807,0.001410501,0.001114364,0.0005275712,0.0005761783,0.00199601,0.001648499],"category_scores_gemma":[0.001369516,0.0006340916,0.0006336319,0.0006108118,0.001037232,0.0006478695,0.0009199349,0.001044763,0.0003808663],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005591998,"about_ca_system_score_gemma":0.0005121795,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004029995,"about_ca_topic_score_gemma":0.006199253,"domain_scores_codex":[0.9996092,0.00003802267,0.00005754391,0.0001075152,0.00009880724,0.00008896999],"domain_scores_gemma":[0.999402,0.0001793226,0.0001601698,0.00001706572,0.00004340812,0.0001981049],"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":[0.0001278414,0.0001153994,0.04212409,0.00006582231,0.0000346477,0.9408601,0.001054071,0.0002042616,0.0110054,0.0002716602,0.0004502544,0.003686469],"study_design_scores_gemma":[0.00003124412,0.0002631346,0.08090825,0.0000365363,0.00004020327,0.9151582,0.0003015082,0.0003564781,0.001769628,0.0001197205,0.0009890943,0.00002599628],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972627,0.0004498885,0.0004701837,0.0003904843,0.00003824246,0.00003297995,0.000189823,0.00007069688,0.001094919],"genre_scores_gemma":[0.9982547,0.0003051046,0.0006708512,0.0001321696,0.00003548689,0.00001595073,0.0001155238,0.00002062944,0.0004496421],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004029995,"threshold_uncertainty_score":0.00801307,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004762886494926933,"score_gpt":0.212897542378071,"score_spread":0.2081346558831441,"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."}}