Publications
Filters: Keyword is Polymorphism, Single Nucleotide [Clear All Filters]
Neighboring-nucleotide effects on single nucleotide polymorphisms: a study of 2.6 million polymorphisms across the human genome. Genome Res. 2002 ;12(11):1679-86.
. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 ;19(8):936-944.
. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet. 2014 ;133(3):331-45.
. Non-coding genetic variants in human disease. Hum Mol Genet. 2015 ;24(R1):R102-10.
. Novel CYP2A6 diplotypes identified through next-generation sequencing are associated with in-vitro and in-vivo nicotine metabolism. Pharmacogenet Genomics. 2018 ;28(1):7-16.
. Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. PLoS One. 2018 ;13(6):e0198166.
. Novel genetic causes for cerebral visual impairment. Eur J Hum Genet. 2016 ;24(5):660-5.
. Optimized sample selection for cost-efficient long-read population sequencing. Genome Res. 2021 ;31(5):910-918.
. Pedigree reconstruction and distant pairwise relatedness estimation from genome sequence data: A demonstration in a population of rhesus macaques (Macaca mulatta). Mol Ecol Resour. 2021 ;21(4):1333-1346.
. The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes. J Med Genet. 2017 ;54(2):134-144.
. 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.
. Phased diploid genome assembly with single-molecule real-time sequencing. Nat Methods. 2016 ;13(12):1050-1054.
. PhaseME: Automatic rapid assessment of phasing quality and phasing improvement. Gigascience. 2020 ;9(7).
. Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies. Nat Genet. 2022 ;54(5):593-602.
. PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population. Clin Invest Med. 2012 ;35(4):E237-45.
. Pol iota is a candidate for the mouse pulmonary adenoma resistance 2 locus, a major modifier of chemically induced lung neoplasia. Cancer Res. 2004 ;64(6):1924-31.
. Polymorphism in soluble epoxide hydrolase and blood pressure in spontaneously hypertensive rats. Hypertension. 2002 ;40(4):485-90.
. Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series. Am J Hum Genet. 2003 ;72(5):1131-40.
. Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions. PLoS One. 2015 ;10(3):e0121644.
. The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences. Genome Res. 2016 ;26(12):1651-1662.
. Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet. 2007 ;39(4):513-6.
. Portals for Exploring Noncoding Variants in Pediatric Cancer. Trends Genet. 2021 ;37(4):297-298.
. Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 2005 ;1(3):e41.
. Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts. PLoS One. 2014 ;9(1):e84810.
. Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet. 2017 ;100(2):205-215.
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