Associated Papers
A de novo nonsense variant in RPS10 causes Diamond-Blackfan anaemia in an Indian patient: clinical and functional evidence.
Kamble P et al.
Molecular Genetics and Genomics : Mgg, 2025
Genetic correlation between fetal nuchal translucency thickening and cystic hygroma and exploration of pregnancy outcome.
Zheng J et al.
Scientific Reports, 2024
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
Smetanina NS et al.
Pediatric Blood & Cancer, 2015
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.
Gerrard G et al.
British Journal of Haematology, 2013
A novel mutation of ribosomal protein S10 gene in a Japanese patient with diamond-Blackfan anemia.
Yazaki M et al.
Journal of Pediatric Hematology/oncology, 2012
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I et al.
Human Mutation, 2010
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Doherty L et al.
American Journal of Human Genetics, 2010
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