The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts

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Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis

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SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value

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SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts

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Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

(2011) Ignacio Varela et al.   NATURE

Frequent pathway mutations of splicing machinery in myelodysplasia

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Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

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SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

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Fast and accurate long-read alignment with Burrows–Wheeler transform

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microRNA fingerprinting of CLL patients with chromosome 17p deletion identify a miR-21 score that stratifies early survival

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Gene expression profiling of erythroblasts from refractory anaemia with ring sideroblasts (RARS) and effects of G-CSF

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Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis

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Acquired mutations in TET2 are common in myelodysplastic syndromes

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Hereditary Sideroblastic Anemias: Pathophysiology, Diagnosis, and Treatment

(2009) Clara Camaschella   SEMINARS IN HEMATOLOGY

The Role of the Iron Transporter ABCB7 in Refractory Anemia with Ring Sideroblasts

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The Role of JAK2 Mutations in RARS and Other MDS

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