{"id":"W4404032139","doi":"10.1016/j.xhgg.2024.100380","title":"CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Japan Society for the Promotion of Science; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; ZonMw; Ontario Genomics Institute; Government of Canada; Amsterdam University Medical Centers; Genome Canada; Ontario Genomics; Citizens United for Research in Epilepsy","keywords":"Phenotype; Identification (biology); Clinical phenotype; Genetics; Biology; 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":[0.0002046823,0.0001696501,0.000236431,0.00006633778,0.0000873501,0.00004623493,0.0001449541,0.0001651498,0.00001068503],"category_scores_gemma":[0.00002845902,0.0001659838,0.00009049856,0.0000822466,0.0001876883,0.000007478627,0.0001599614,0.0001004501,0.000001021731],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006318673,"about_ca_system_score_gemma":0.0001195322,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008606117,"about_ca_topic_score_gemma":0.00003453905,"domain_scores_codex":[0.9986706,0.00004691042,0.0005931976,0.000421504,0.0001084486,0.000159353],"domain_scores_gemma":[0.99941,0.00001727329,0.0002260446,0.0001775825,0.00006993338,0.00009915113],"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":[0.00008722558,0.000287579,0.02596731,0.0002509227,0.0006039721,0.000007993739,0.0005357975,0.0011361,0.8957818,0.001140824,0.0007034573,0.07349706],"study_design_scores_gemma":[0.005318614,0.002530122,0.7898676,0.0002596309,0.001155854,0.00004921453,0.0009279182,0.004069136,0.06135435,0.03833432,0.09410837,0.002024874],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.929505,0.06951378,0.0002372344,0.00004998288,0.0002593102,0.0001802549,0.0001938817,0.000007864238,0.00005269256],"genre_scores_gemma":[0.9837726,0.01498141,0.0004941673,0.00002901685,0.00008562834,0.000002961607,0.0003569283,0.00002838202,0.0002489345],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8344274,"threshold_uncertainty_score":0.6768621,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007636136034127558,"score_gpt":0.2742556034280083,"score_spread":0.2666194673938808,"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."}}