Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3

Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma

(2013) J William Harbour et al.   NATURE GENETICS

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

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Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma: a long-term follow-up study

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Global mapping of translation initiation sites in mammalian cells at single-nucleotide resolution

(2012) S. Lee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Eukaryotic Initiation Factor 2 Phosphorylation and Translational Control in Metabolism

(2012) Thomas D. Baird et al.   Advances in Nutrition

Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness

(2011) D. Rossi et al.   BLOOD

Ribosome Profiling of Mouse Embryonic Stem Cells Reveals the Complexity and Dynamics of Mammalian Proteomes

(2011) Nicholas T. Ingolia et al.   CELL

Reduced fidelity of branch point recognition and alternative splicing induced by the anti-tumor drug spliceostatin A

(2011) A. Corrionero et al.   GENES & DEVELOPMENT

The anti-tumor drug E7107 reveals an essential role for SF3b in remodeling U2 snRNP to expose the branch point-binding region

(2011) E. G. Folco et al.   GENES & DEVELOPMENT

Frequency, molecular pathology and potential clinical significance of partial chromosome 3 aberrations in uveal melanoma

(2011) Mohamed H Abdel-Rahman et al.   MODERN PATHOLOGY

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

(2011) Víctor Quesada et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Spliceosome mutations in hematopoietic malignancies

(2011) Christopher N Hahn et al.   NATURE GENETICS

Modernizing Reference Genome Assemblies

(2011) Deanna M. Church et al.   PLOS BIOLOGY

Genotypic Profiling of 452 Choroidal Melanomas with Multiplex Ligation-Dependent Probe Amplification

(2010) B. Damato et al.   CLINICAL CANCER RESEARCH

Mutations inGNA11in Uveal Melanoma

(2010) Catherine D. Van Raamsdonk et al.   NEW ENGLAND JOURNAL OF MEDICINE

Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas

(2010) J. W. Harbour et al.   SCIENCE

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma

(2009) J Bauer et al.   BRITISH JOURNAL OF CANCER

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

(2008) Catherine D. Van Raamsdonk et al.   NATURE