Published in PLoS One on July 31, 2015
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62
COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res (2010) 25.55
Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat (2003) 12.88
Identification of the von Hippel-Lindau disease tumor suppressor gene. Science (1993) 11.95
Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science (1990) 8.91
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science (2000) 8.64
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet (2001) 4.71
Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet (2000) 4.55
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet (1993) 4.38
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med (2013) 3.90
Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol (2012) 3.62
SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell (2013) 3.24
SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet (2010) 3.07
Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. N Engl J Med (2012) 2.74
PHD2 mutation and congenital erythrocytosis with paraganglioma. N Engl J Med (2008) 2.56
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol (2010) 2.42
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet (2011) 2.29
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet (2010) 2.23
The real cost of sequencing: higher than you think! Genome Biol (2011) 2.22
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. J Med Genet (2012) 2.04
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat (2013) 1.85
Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma identified by exome sequencing. J Clin Endocrinol Metab (2013) 1.69
Variant callers for next-generation sequencing data: a comparison study. PLoS One (2013) 1.50
Genomics in clinical practice: lessons from the front lines. Sci Transl Med (2013) 1.38
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clin Cancer Res (2009) 1.38
Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment. Curr Probl Cancer (2014) 1.33
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. Eur J Hum Genet (2012) 1.33
Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter. PLoS One (2012) 1.30
The genetics of phaeochromocytoma: using clinical features to guide genetic testing. Eur J Endocrinol (2011) 1.22
Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform. J Mol Diagn (2012) 1.21
Robustness of amplicon deep sequencing underlines its utility in clinical applications. J Mol Diagn (2013) 1.13
Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers. PLoS One (2013) 1.12
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. Hum Mol Genet (2012) 1.03
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. J Clin Endocrinol Metab (2013) 1.02
Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma. J Clin Endocrinol Metab (2014) 0.89
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. Clin Endocrinol (Oxf) (2013) 0.89
Diagnosis and management of neurofibromatosis type 1. Curr Neurol Neurosci Rep (2001) 0.87
Spatiotemporal Heterogeneity Characterizes the Genetic Landscape of Pheochromocytoma and Defines Early Events in Tumorigenesis. Clin Cancer Res (2015) 0.81
Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours. PLoS One (2014) 0.81
MAX mutations status in Swedish patients with pheochromocytoma and paraganglioma tumours. Fam Cancer (2014) 0.78
Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation. J Clin Endocrinol Metab (2014) 0.77