Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors

Metastatic disease from uveal melanoma: treatment options and future prospects

(2016) Richard D Carvajal et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Clinical outcomes in metastatic uveal melanoma treated with PD-1 and PD-L1 antibodies

(2016) Alain P. Algazi et al.   CANCER

The use of pembrolizumab for the treatment of metastatic uveal melanoma

(2016) Lisa A. Kottschade et al.   MELANOMA RESEARCH

Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage

(2016) Samar Alsafadi et al.   Nature Communications

Clinical activity and safety of Pembrolizumab in Ipilimumab pre-treated patients with uveal melanoma

(2016) Ioannis Karydis et al.   OncoImmunology

Identification of an Immunogenic Subset of Metastatic Uveal Melanoma

(2015) L. D. Rothermel et al.   CLINICAL CANCER RESEARCH

Genomic correlates of response to CTLA-4 blockade in metastatic melanoma

(2015) E. M. Van Allen et al.   SCIENCE

Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer

(2015) N. A. Rizvi et al.   SCIENCE

APOBEC Enzymes: Mutagenic Fuel for Cancer Evolution and Heterogeneity

(2015) C. Swanton et al.   Cancer Discovery

Epidemiologic and Molecular Prognostic Review of Glioblastoma

(2014) J. P. Thakkar et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

(2014) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

Break-Induced Replication Repair of Damaged Forks Induces Genomic Duplications in Human Cells

(2013) Lorenzo Costantino et al.   SCIENCE

SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma

(2013) S. J. Furney et al.   Cancer Discovery

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

(2013) Fergus J. Couch et al.   PLoS Genetics

Identification and validation of loss of function variants in clinical contexts

(2013) Francesco Lescai et al.   Molecular Genetics & Genomic Medicine

Pyrophosphorolysis-Activated Polymerization Detects Circulating Tumor DNA in Metastatic Uveal Melanoma

(2012) J. Madic et al.   CLINICAL CANCER RESEARCH

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

(2010) Yiping He et al.   NATURE

Rare Variants Create Synthetic Genome-Wide Associations

(2010) Samuel P. Dickson et al.   PLOS BIOLOGY