{"id":"W4388461661","doi":"10.1016/j.gim.2023.101023","title":"Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":false,"ca_institutions":"St. Thomas Hospital; Hospital for Sick Children","funders":"Yale Center for Clinical Investigation, Yale School of Medicine; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Eye Institute; National Heart, Lung, and Blood Institute; Perelman School of Medicine, University of Pennsylvania; Intellectual and Developmental Disabilities Research Center; Horizon 2020; National Human Genome Research Institute; Epilepsy Society; Deutsche Forschungsgemeinschaft; European Commission; Broad Institute; National Institute for Health and Care Research; Institute for Translational Medicine and Therapeutics; HORIZON EUROPE Framework Programme; Yale New Haven Hospital; Cancer Research UK; Wellcome Trust; University of Pennsylvania; National Center for Advancing Translational Sciences; Medical Research Council; Hartwell Foundation; Health Research Institute, University of Limerick; Horizon 2020 Framework Programme; Children's Hospital of Philadelphia; Yale University; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Missense mutation; Phenotype; Frameshift mutation; Gene knockdown; Biology; Exome sequencing; Neurodevelopmental disorder; Allele; Genetics; Gene","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":[0.0004948893,0.0002258341,0.0003122211,0.0002190229,0.0001373456,0.00001968297,0.0001422834,0.0001558055,0.0000197806],"category_scores_gemma":[0.0002338157,0.0002187208,0.00003959945,0.0004130222,0.0001056256,0.000003233191,0.0003748383,0.0001534891,0.00002114633],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003286739,"about_ca_system_score_gemma":0.00006792453,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001618291,"about_ca_topic_score_gemma":0.00009234368,"domain_scores_codex":[0.9983178,0.0001009226,0.0004265751,0.0005148517,0.0002223793,0.000417419],"domain_scores_gemma":[0.9993151,0.00003951405,0.00008831298,0.0003635443,0.00005202109,0.0001414624],"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":[0.00001689023,0.000108231,0.3655878,0.0002963217,0.0003553312,0.0002619439,0.001601639,0.001215064,0.5980447,0.0001177188,0.003137848,0.02925655],"study_design_scores_gemma":[0.00166422,0.0005991501,0.9786985,0.0002307323,0.00006245144,0.0005613045,0.0006460524,0.0009788878,0.003019414,0.0001013373,0.0129863,0.0004516501],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954197,0.002222236,0.0003008312,0.000272261,0.0009500388,0.0003419936,0.00001136345,0.0000361727,0.0004453526],"genre_scores_gemma":[0.9940357,0.00420153,0.0008668907,0.0001406979,0.0002531495,0.00004729637,0.00008019415,0.00004246128,0.00033208],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6131107,"threshold_uncertainty_score":0.8919174,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03252461494893546,"score_gpt":0.2908157945569977,"score_spread":0.2582911796080623,"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."}}