{"id":"W4407729351","doi":"10.1111/cge.14726","title":"<i>CDK13</i> ‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management","year":2025,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Eunice Kennedy Shriver National Institute of Child Health and Human Development; University of California, San Francisco; Faculty of Health and Medical Sciences, University of Western Australia; Università degli Studi di Udine; Centre Hospitalier Universitaire Vaudois; Università degli Studi dell'Aquila; Università di Bologna; Akdeniz Üniversitesi; Departamento de Ingeniería Mecánica, Universidad de Chile; Università degli Studi di Palermo; Ministero della Salute; Università degli Studi di Genova; Istituto Superiore di Sanità; Ospedale Pediatrico Bambino Gesù; Hunter New England Local Health District","keywords":"Intellectual disability; Congenital disorder; Medicine; Differential diagnosis; Phenotype; Pediatrics; Psychology; Genetics; Psychiatry; Surgery; Pathology; Biology; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001107879,0.0001365371,0.000271577,0.00002622939,0.00007899009,0.00001450988,0.0001199874,0.000221309,0.000007617133],"category_scores_gemma":[0.0002085801,0.0001274355,0.0001778464,0.00007855492,0.0002211731,0.000002636149,0.0001766333,0.00006887929,0.000001759989],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002930314,"about_ca_system_score_gemma":0.00003925074,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001667414,"about_ca_topic_score_gemma":0.0001330024,"domain_scores_codex":[0.9986596,0.00005541435,0.0007162848,0.0003960406,0.00005041774,0.0001223096],"domain_scores_gemma":[0.9991983,0.0002161167,0.0001327786,0.0003111253,0.00007715698,0.00006453813],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00145564,0.005765603,0.6545368,0.0002150213,0.003469121,0.000009386233,0.0001119598,0.00003086613,0.002653945,0.008144229,0.02885994,0.2947474],"study_design_scores_gemma":[0.008544376,0.001833796,0.1713195,0.00008559271,0.0006880701,0.000002152412,0.0004546045,0.0001335823,0.001393388,0.006886403,0.8082826,0.0003760148],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9869196,0.005735017,0.003961362,0.0008240365,0.0008240535,0.0005724134,0.0003340083,0.00001103515,0.0008184141],"genre_scores_gemma":[0.9481568,0.03853406,0.01003216,0.0005618118,0.00007520925,0.00004255395,0.0006477816,0.0000199463,0.001929654],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7794226,"threshold_uncertainty_score":0.5196667,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04353468669118816,"score_gpt":0.3811510126010213,"score_spread":0.3376163259098331,"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."}}