Publications
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The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet. 2014 ;95(2):143-61.
. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet. 2014 ;95(2):143-61.
. Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 ;121(4):314-319.
. Association between somatostatin receptor 5 gene polymorphisms and pancreatic cancer risk and survival. Cancer. 2011 ;117(13):2863-72.
. Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 ;16(1):286.
. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 ;9(4):e1003443.
. Atlas2 Cloud: a framework for personal genome analysis in the cloud. BMC Genomics. 2012 ;13 Suppl 6(Suppl 6):S19.
. Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes. Nat Commun. 2018 ;9(1):828.
. Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology. Nat Genet. 2017 ;49(11):1560-1563.
. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 ;21(9):2135-2144.
. The Atlas genome assembly system. Genome Res. 2004 ;14(4):721-32.
. Association between somatostatin receptor 5 gene polymorphisms and pancreatic cancer risk and survival. Cancer. 2011 ;117(13):2863-72.
. Additive genetic variation in the craniofacial skeleton of baboons (genus Papio) and its relationship to body and cranial size. Am J Phys Anthropol. 2018 ;165(2):269-285.
. . Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma. Oncotarget. 2017 ;8(28):46065-46070.
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Activating p53 family member TAp63: A novel therapeutic strategy for targeting p53-altered tumors. Cancer. 2019 ;125(14):2409-2422.
. Association of Single Nucleotide Polymorphisms in the ST3GAL4 Gene with VWF Antigen and Factor VIII Activity. PLoS One. 2016 ;11(9):e0160757.
. Association Between Midlife Obesity and Kidney Function Trajectories: The Atherosclerosis Risk in Communities (ARIC) Study. Am J Kidney Dis. 2021 ;77(3):376-385.
. APOA5 polymorphisms influence plasma triglycerides in young, healthy African Americans and whites of the CARDIA Study. J Lipid Res. 2005 ;46(3):564-71.
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Atypical angiopoietin-like protein that regulates ANGPTL3. Proc Natl Acad Sci U S A. 2012 ;109(48):19751-6.
. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 ;24(14):4061-77.
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