{"id":"W7117302272","doi":"10.1002/1545-5017.70023","title":"Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome","year":2025,"lang":"en","type":"article","venue":"Pediatric Blood & Cancer","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children; Nova Scotia Health Authority; Izaak Walton Killam Health Centre","funders":"","keywords":"Bone marrow; Haematopoiesis; Feature (linguistics); Bone marrow failure; Chromatin; Histone; Histone acetyltransferase","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.00009050148,0.0004340781,0.0002856761,0.0006868336,0.0002958589,0.0003316955,0.0002484323,0.0004140883,0.001123493],"category_scores_gemma":[0.0007266946,0.0001384991,0.00009549748,0.0004607578,0.0003904968,0.0002755856,0.0003188468,0.0002985058,0.0002336508],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002609036,"about_ca_system_score_gemma":0.0004288355,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003694118,"about_ca_topic_score_gemma":0.004196983,"domain_scores_codex":[0.9998899,0.00001131703,0.00001172262,0.00002505693,0.00003292987,0.00002916791],"domain_scores_gemma":[0.9997496,0.00006089883,0.00008281624,0.00001414432,0.0000322218,0.00006030459],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00009073838,0.00001886426,0.202437,0.0001428027,0.00002970197,0.7348549,0.0006854284,0.0002457307,0.03500886,0.0008276468,0.001236272,0.02442217],"study_design_scores_gemma":[0.000005982075,0.00005108322,0.07813974,0.00004779528,0.00002874942,0.9146015,0.000370345,0.0002474697,0.003848949,0.0002984249,0.002348597,0.00001130265],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9872518,0.004514632,0.002219551,0.0004889318,0.00003230789,0.00002674893,0.0002261072,0.0001577855,0.005082055],"genre_scores_gemma":[0.9979336,0.001033374,0.0005131606,0.000146511,0.00001999345,0.000002983387,0.00008051631,0.00001387659,0.000255979],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003694118,"threshold_uncertainty_score":0.007345259,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00433129181580302,"score_gpt":0.2434094182667502,"score_spread":0.2390781264509472,"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."}}