Publications
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Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium. PLoS One. 2013 ;8(7):e68095.
. Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes. J Thromb Haemost. 2013 ;11(2):261-9.
. dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat. 2013 ;34(9):E2393-402.
. Deep resequencing and association analysis of schizophrenia candidate genes. Mol Psychiatry. 2013 ;18(2):138-40.
. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 ;23(9):1383-94.
. Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida. Birth Defects Res A Clin Mol Teratol. 2013 ;97(9):597-601.
. MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes. J Pathol. 2013 ;229(1):99-110.
. Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms. Genome Biol. 2012 ;13(2):R15.
. A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012 ;335(6070):823-8.
. Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A. 2011 ;108(29):11983-8.
. Dissociation between APOC3 variants, hepatic triglyceride content and insulin resistance. Hepatology. 2011 ;53(2):467-74.
. Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium. Ann Neurol. 2011 ;69(6):928-39.
. The hypofunctional effect of P335L single nucleotide polymorphism on SSTR5 function. World J Surg. 2011 ;35(8):1715-24.
. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol. 2011 ;12(7):R68.
. Genetic diversity in India and the inference of Eurasian population expansion. Genome Biol. 2010 ;11(11):R113.
. A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels. Am J Hum Genet. 2010 ;86(3):440-6.
. Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds. Science. 2009 ;324(5926):528-32.
. Low frequency of MLL3 mutations in colorectal carcinoma. Cancer Genet Cytogenet. 2009 ;189(2):140-1.
. Association of the complement factor H Y402H polymorphism with cardiovascular disease is dependent upon hypertension status: The ARIC study. Am J Hypertens. 2008 ;21(5):533-8.
. Peroxisome proliferator-activated receptor [alpha] genetic variation interacts with n-6 and long-chain n-3 fatty acid intake to affect total cholesterol and LDL-cholesterol concentrations in the Atherosclerosis Risk in Communities Study. Am J Clin Nutr. 2008 ;87(6):1926-31.
. Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10. Am J Hypertens. 2008 ;21(1):117-21.
. Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens". Science. 2007 ;316(5823):370.
. An entropy-based genome-wide transmission/disequilibrium test. Hum Genet. 2007 ;121(3-4):357-67.
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