Publications
Filters: Filter is [Clear All Filters]
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 ;14:83.
. Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med. 2013 ;5(6):57.
. Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida. Birth Defects Res A Clin Mol Teratol. 2013 ;97(9):597-601.
. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 ;83(5):457-461.
. Fat mass and obesity gene and cognitive decline: the Atherosclerosis Risk in Communities Study. Neurology. 2013 ;80(1):92-9.
. From human genome to cancer genome: the first decade. Genome Res. 2013 ;23(7):1054-62.
. A functional variomics tool for discovering drug-resistance genes and drug targets. Cell Rep. 2013 ;3(2):577-85.
. Genome-wide analysis of stepwise hepatocarcinogenesis using next generation sequencer. In AACR 104th Annual Meeting 2013. Washington, DC: Cancer Res; 2013.
. A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. Genet Epidemiol. 2013 ;37(5):512-521.
. Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. Genet Epidemiol. 2013 ;37(8):840-5.
. The i5K Initiative: advancing arthropod genomics for knowledge, human health, agriculture, and the environment. J Hered. 2013 ;104(5):595-600.
Identification of a response regulator involved in surface attachment, cell-cell aggregation, exopolysaccharide production and virulence in the plant pathogen Xylella fastidiosa. Mol Plant Pathol. 2013 ;14(3):256-64.
. Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. Pediatr Blood Cancer. 2013 ;60(6):E1-3.
. In transition: primate genomics at a time of rapid change. ILAR J. 2013 ;54(2):224-33.
. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 ;15(1):45-54.
. Integrated genomic characterization of endometrial carcinoma. Nature. 2013 ;497(7447):67-73.
. Integrative annotation of variants from 1092 humans: application to cancer genomics. Science. 2013 ;342(6154):1235587.
. Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers. Cancer Discov. 2013 ;3(7):770-81.
. An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data. Genome Res. 2013 ;23(5):833-42.
. Longitudinal study shows increasing obesity and hyperglycemia in micronesia. Obesity (Silver Spring). 2013 ;21(9):E421-7.
. Metabolomics and incident hypertension among blacks: the atherosclerosis risk in communities study. Hypertension. 2013 ;62(2):398-403.
. Metagenomic analyses of alcohol induced pathogenic alterations in the intestinal microbiome and the effect of Lactobacillus rhamnosus GG treatment. PLoS One. 2013 ;8(1):e53028.
. Metastasis tumor-associated protein 2 enhances metastatic behavior and is associated with poor outcomes in estrogen receptor-negative breast cancer. Breast Cancer Res Treat. 2013 ;141(3):375-384.
. MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes. J Pathol. 2013 ;229(1):99-110.
. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 ;93(3):471-81.
.