{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002224242,0.0009060447,0.0004128416,0.001075064,0.0005941975,0.0003179056,0.0002929555,0.0005579037,0.001037633],"category_scores_gemma":[0.001374886,0.000251481,0.0002983152,0.000475643,0.0005345051,0.0002556586,0.0007653448,0.0003298001,0.0002442608],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003801972,"about_ca_system_score_gemma":0.000229342,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001880521,"about_ca_topic_score_gemma":0.00202881,"domain_scores_codex":[0.9996976,0.00002495292,0.00003654051,0.0001305374,0.00005840845,0.00005198895],"domain_scores_gemma":[0.9997336,0.00004751127,0.00005444862,0.00003012688,0.00003399732,0.0001003437],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007044266,0.000576979,0.6695886,0.0001106053,0.00009486442,0.2253898,0.002359692,0.0004142787,0.05816759,0.0003551008,0.0008671005,0.04137095],"study_design_scores_gemma":[0.00005049471,0.001076657,0.702978,0.00002740829,0.00008221332,0.2819505,0.0005294431,0.0007833543,0.008664254,0.0002360713,0.00357469,0.00004696079],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985718,0.0002043503,0.0005101151,0.00003647243,0.000007068279,0.00003516264,0.0001560235,0.00001846101,0.0004605975],"genre_scores_gemma":[0.9977463,0.0002068753,0.000997077,0.00007706609,0.000012797,0.00003140296,0.0003440585,0.000009413416,0.0005749649],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001880521,"threshold_uncertainty_score":0.003739178,"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."}}