{"id":"W2915032888","doi":"10.1038/s41431-018-0292-2","title":"De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms","year":2019,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Cancer-related gene regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":false,"ca_institutions":"Impact; Alberta Children's Hospital; University of Calgary","funders":"Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine in St. Louis; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Intellectual and Developmental Disabilities Research Center; National Institutes of Health; ZonMw; National Institute of Child Health and Human Development; Wellcome Trust","keywords":"Genetics; Frameshift mutation; Biology; Missense mutation; Intellectual disability; Hypotonia; Exon; Comparative genomic hybridization; Gene; Copy-number variation; Ubiquitin ligase; Genome; Mutation; Ubiquitin","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":[0.0004210897,0.0001226247,0.0001820558,0.00005972182,0.00002265059,0.00001689263,0.0001522077,0.00004739199,0.00002652492],"category_scores_gemma":[0.00001595453,0.0001082238,0.0000469954,0.00007173459,0.0001385895,0.000006386421,0.00007418154,0.0001478266,0.00000161155],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004505761,"about_ca_system_score_gemma":0.00006256116,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004872043,"about_ca_topic_score_gemma":0.00007719266,"domain_scores_codex":[0.9990091,0.0001340695,0.0004169634,0.0001644564,0.0001151645,0.0001602236],"domain_scores_gemma":[0.9993517,0.000008789362,0.0002606458,0.0002204336,0.00008865823,0.00006979518],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002754777,0.000225473,0.09077272,0.00005597887,0.00007957453,0.00003734005,0.001611848,0.002408506,0.9011225,0.000006771223,0.00005537746,0.003348427],"study_design_scores_gemma":[0.00684661,0.01612065,0.7975525,0.000514463,0.0002712806,0.002855489,0.0004491493,0.0003867266,0.1730837,0.0002091809,0.001015659,0.0006946091],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989203,0.000461258,0.0002521408,0.00001690489,0.00005769718,0.0001605243,0.000005046514,0.000001882038,0.0001242835],"genre_scores_gemma":[0.9990634,0.0001043614,0.0006464441,0.000008180628,0.00007280925,5.667602e-7,0.000007705881,0.00003116549,0.00006535689],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7280388,"threshold_uncertainty_score":0.4413237,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01776523540778559,"score_gpt":0.2476959683901935,"score_spread":0.2299307329824079,"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."}}