Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia

(2012) M. Kuramitsu et al.   BLOOD

Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia

(2011) K. A. Alford et al.   BLOOD

Ribosomal protein gene deletions in Diamond-Blackfan anemia

(2011) J. E. Farrar et al.   BLOOD

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

(2010) Leana Doherty et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ribosomopathies: human disorders of ribosome dysfunction

(2010) A. Narla et al.   BLOOD

The ribosomal basis of diamond-blackfan anemia: mutation and database update

(2010) Ilenia Boria et al.   HUMAN MUTATION

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia

(2010) Kiran Musunuru et al.   NEW ENGLAND JOURNAL OF MEDICINE

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

(2008) Hanna T. Gazda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

(2008) Adrianna Vlachos et al.   BRITISH JOURNAL OF HAEMATOLOGY

Rb intrinsically promotes erythropoiesis by coupling cell cycle exit with mitochondrial biogenesis

(2008) V. G. Sankaran et al.   GENES & DEVELOPMENT