Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1

(2014) Y. Guo et al.   BLOOD

Molecular defects identified by whole exome sequencing in a child with Fanconi anemia

(2013) Zhaojing Zheng et al.   GENE

Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability

(2013) Tangui Le Guen et al.   HUMAN MOLECULAR GENETICS

The Spectrum ofELANEMutations and their Implications in Severe Congenital and Cyclic Neutropenia

(2013) Manuela Germeshausen et al.   HUMAN MUTATION

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

(2013) Hirotoshi Sakaguchi et al.   NATURE GENETICS

The Czech National Diamond-Blackfan Anemia Registry: Clinical data and ribosomal protein mutations update

(2012) Dagmar Pospisilova et al.   BLOOD CELLS MOLECULES AND DISEASES

Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma

(2012) Stephanie Smetsers et al.   Familial Cancer

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia GeneSLX4/FANCP

(2012) Beatrice Schuster et al.   HUMAN MUTATION

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

(2012) Vijay G. Sankaran et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia

(2011) Mignon L. Loh   BRITISH JOURNAL OF HAEMATOLOGY

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

(2011) Andrew R. Cullinane et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Exome sequencing as a tool for Mendelian disease gene discovery

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

Childhood Myelodysplastic Syndrome: Focus on the Approach to Diagnosis and Treatment of Juvenile Myelomonocytic Leukemia

(2011) M. L. Loh   Hematology-American Society of Hematology Education Program

Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation

(2010) M. Takagi et al.   BLOOD

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

(2010) Ilenia Boria et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

MYH9-Related Platelet Disorders

(2009) Karina Althaus et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

The genetic and molecular basis of Fanconi anemia

(2008) Johan P. de Winter et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Juvenile Myelomonocytic Leukemia: Report of Seven Cases and Review of Literature

(2008) Latha Urs et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY