Associated Papers
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.
Quarello P et al.
American Journal of Hematology, 2026
41247002 (PubMed )
Supplement: AJH-101-228-s001.docx
Case Report: Clinical management of a severe DBA patient with a novel RPS19 mutation.
Zhou J et al.
Frontiers in Pediatrics, 2025
Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.
Gianferante DM et al.
Ejhaem, 2024
39691264 (PubMed )
Supplement: JHA2-5-1117-s001.pdf
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.
Qin Y et al.
Bmc Medical Genomics, 2023
Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.
Li J et al.
International Journal of Laboratory Hematology, 2023
Unusual Association of Diamond-Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review.
Moisa SM et al.
Medicina (kaunas, Lithuania), 2023
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
Aspesi A et al.
Human Mutation, 2018
29766597 (PubMed )
Supplement: HUMU-39-1102-s001.pdf
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
Errichiello E et al.
Blood Cells, Molecules & Diseases, 2017
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
Smetanina NS et al.
Pediatric Blood & Cancer, 2015
Altered translation of GATA1 in Diamond-Blackfan anemia.
Ludwig LS et al.
Nature Medicine, 2014
Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea.
Kim SK et al.
The Korean Journal of Hematology, 2012
[Diamond-Blackfan anemia confirmed by RPS19 gene mutation analysis: a case study and literature review of Korean patients].
Chae H et al.
The Korean Journal of Laboratory Medicine, 2010
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
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