DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.
Quarello P, Karimi K, Trajkova S, Garelli E, Samadieh M, Iovino E, Pippucci T, Papagni G, Dalfonso S, Corrado L, Rizzo S, Carando A, Kerkhof J, Rzasa J, McConkey H, Levy M, Zecca M, Fioredda F, Barone A, Cesaro S, Gabelli M, Torchio F, Zucchetti G, Cantarini ME, Corti P, Ramenghi U, Locatelli F, Fagioli F, Sadikovic B, Brusco A.
Quarello P, et al.
Am J Hematol. 2026 Feb;101(2):228-241. doi: 10.1002/ajh.70141. Epub 2025 Nov 17.
Am J Hematol. 2026.
PMID: 41247002
Free PMC article.
We investigated the evidence for a DNA methylation (DNAm) episignature in a cohort of 80 DBAS patients with causative variants in various ribosomal protein genes: DBA1 (RPS19, n = 30), DBA4 (RPS17, n = 6), DBA5 (RPL35A, n = 8), DBA6 (RPL5, n = 15), DBA7 (RPL11, n = …
We investigated the evidence for a DNA methylation (DNAm) episignature in a cohort of 80 DBAS patients with causative variants in various ri …