Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia

(2015) Asuka Hira et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes

(2015) Ibrahim Ghemlas et al.   JOURNAL OF MEDICAL GENETICS

Stress and DNA repair biology of the Fanconi anemia pathway

(2014) S. Longerich et al.   BLOOD

Bone marrow failure and the telomeropathies

(2014) D. M. Townsley et al.   BLOOD

Marrow failure: a window into ribosome biology

(2014) D. Ruggero et al.   BLOOD

Loss of function mutations inRPL27andRPS27identified by whole-exome sequencing in Diamond-Blackfan anaemia

(2014) RuNan Wang et al.   BRITISH JOURNAL OF HAEMATOLOGY

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity

(2014) M. Y. Zhang et al.   HAEMATOLOGICA

Variable Clinical Presentation of Shwachman–Diamond Syndrome: Update from the North American Shwachman–Diamond Syndrome Registry

(2014) Kasiani C. Myers et al.   JOURNAL OF PEDIATRICS

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

(2013) Shinji Kunishima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia

(2013) S. C. Chandrasekharappa et al.   BLOOD

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia

(2013) Hirotoshi Sakaguchi et al.   NATURE GENETICS

Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry

(2012) A. Vlachos et al.   BLOOD

Inherited bone marrow failure syndromes in 2012

(2012) Hirotoshi Sakaguchi et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Cancer in dyskeratosis congenita

(2009) B. P. Alter et al.   BLOOD

Severe Congenital Neutropenia

(2009) Karl Welte et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE