The genomics of inherited bone marrow failure: from mechanism to the clinic

Author:

Wegman-Ostrosky Talia12,Savage Sharon A.1

Affiliation:

1. Clinical Genetics Branch; Division of Cancer Epidemiology and Genetics; National Cancer Institute; National Institutes of Health; Bethesda MD USA

2. Research Division; Instituto Nacional de Cancerologia; Mexico City Mexico

Funder

Division of Cancer Epidemiology and Genetics

National Cancer Institute

NCI Research Participation Program

Publisher

Wiley

Subject

Hematology

Reference142 articles.

1. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome;Albers;Nature Genetics,2012

2. Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene;Alder;Human Mutation,2013

3. VACTERL-H association and Fanconi anemia;Alter;Molecular Syndromology,2013

4. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita;Alter;Blood,2007

5. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study;Alter;British Journal of Haematology,2010

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