Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan Anemia

(2018) Marjolijn C.J. Jongmans et al.   HAEMATOLOGICA

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient

(2017) Parvathy Venugopal et al.   HAEMATOLOGICA

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient

(2017) Parvathy Venugopal et al.   HAEMATOLOGICA

Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia

(2016) Paola Quarello et al.   BRITISH JOURNAL OF HAEMATOLOGY

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Ribosomal protein gene deletions in Diamond-Blackfan anemia

(2011) J. E. Farrar et al.   BLOOD

Diamond Blackfan Anemia Treatment: Past, Present, and Future

(2011) Anupama Narla et al.   SEMINARS IN HEMATOLOGY

How I treat Diamond-Blackfan anemia

(2010) A. Vlachos et al.   BLOOD