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

SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias

(2013) F Damm et al.   LEUKEMIA

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

The genetic basis of early T-cell precursor acute lymphoblastic leukaemia

(2012) Jinghui Zhang et al.   NATURE

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia

(2012) Rocco Piazza et al.   NATURE GENETICS

Janus Kinase 3–Activating Mutations Identified in Natural Killer/T-cell Lymphoma

(2012) Ghee Chong Koo et al.   Cancer Discovery

FERM domain mutations induce gain of function in JAK3 in adult T-cell leukemia/lymphoma

(2011) N. E. Elliott et al.   BLOOD

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia

(2010) Benoîte Pérez et al.   BRITISH JOURNAL OF HAEMATOLOGY

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia

(2009) I. Cristobal et al.   BLOOD

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia

(2009) M. L. Loh et al.   BLOOD

Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia

(2009) H. Muramatsu et al.   BLOOD

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome

(2008) Tomohiko Sato et al.   BRITISH JOURNAL OF HAEMATOLOGY

Evi-1 Is a Critical Regulator for Hematopoietic Stem Cells and Transformed Leukemic Cells

(2008) Susumu Goyama et al.   Cell Stem Cell

Reactome knowledgebase of human biological pathways and processes

(2008) L. Matthews et al.   NUCLEIC ACIDS RESEARCH