Publications
Epistasis dominates the genetic architecture of Drosophila quantitative traits. Proc Natl Acad Sci U S A. 2012 ;109(39):15553-9.
. A functional variomics tool for discovering drug-resistance genes and drug targets. Cell Rep. 2013 ;3(2):577-85.
. Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines. Genome Res. 2014 ;24(7):1193-208.
. TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data. Am J Hum Genet. 2022 ;109(6):1175-1181.
. FLAGS: A Flexible and Adaptive Association Test for Gene Sets Using Summary Statistics. Genetics. 2016 ;202(3):919-29.
. A hybrid computational strategy to address WGS variant analysis in >5000 samples. BMC Bioinformatics. 2016 ;17(1):361.
. Comparison of strategies for selecting single nucleotide polymorphisms for case/control association studies. Hum Genet. 2003 ;113(3):253-7.
. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J Inherit Metab Dis. 2015 ;38(5):905-14.
. Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. Blood. 2015 ;126(11):e19-29.
. Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature. 2012 ;483(7387):82-6.
. Sequence analysis in reveals pervasiveness of X-Y arms races in mammalian lineages. Genome Res. 2020 ;30(12):1716-1726.
. Molecular and Clinical Findings in Patients With Knobloch Syndrome. JAMA Ophthalmol. 2016 ;134(7):753-62.
. A catalog of reference genomes from the human microbiome. Science. 2010 ;328(5981):994-9.
. Structure, function and diversity of the healthy human microbiome. Nature. 2012 ;486(7402):207-14.
A framework for human microbiome research. Nature. 2012 ;486(7402):215-21.
Generation and characterization of antibodies against Asian elephant (Elephas maximus) IgG, IgM, and IgA. PLoS One. 2015 ;10(2):e0116318.
. Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity. Genome Res. 1997 ;7(6):642-8.
. Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases. Genes (Basel). 2023 ;14(2).
. Nasopharyngeal Proteobacteria are associated with viral etiology and acute wheezing in children with severe bronchiolitis. J Allergy Clin Immunol. 2014 ;133(4):1220-2.
. The i5K Initiative: advancing arthropod genomics for knowledge, human health, agriculture, and the environment. J Hered. 2013 ;104(5):595-600.
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun. 2016 ;4(1):56.
. Genome-wide single nucleotide polymorphism arrays as a diagnostic tool in patients with synchronous endometrial and ovarian cancer. Int J Gynecol Cancer. 2012 ;22(5):725-31.
. Genome sequence of the pea aphid Acyrthosiphon pisum. PLoS Biol. 2010 ;8(2):e1000313.
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. Nature. 2004 ;432(7018):695-716.
Integrating common and rare genetic variation in diverse human populations. Nature. 2010 ;467(7311):52-8.
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