Publications
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Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med. 2017 ;19(1):13-19.
. Enhancer and promoter elements directing activation and glucocorticoid repression of the alpha 1-fetoprotein gene in hepatocytes. Mol Cell Biol. 1988 ;8(4):1398-407.
. Endometriosis is associated with progesterone resistance in the baboon (Papio anubis) oviduct: evidence based on the localization of oviductal glycoprotein 1 (OVGP1). Biol Reprod. 2009 ;80(2):272-8.
. ENCODE: more genomic empowerment. Genome Res. 2007 ;17(6):667-8.
. Empowering personalized pharmacogenomics with generative AI solutions. J Am Med Inform Assoc. 2024 ;31(6):1356-1366.
. Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example. J Am Med Inform Assoc. 2018 ;25(10):1375-1381.
. An Empirical Comparison of Joint and Stratified Frameworks for Studying G × E Interactions: Systolic Blood Pressure and Smoking in the CHARGE Gene-Lifestyle Interactions Working Group. Genet Epidemiol. 2016 ;40(5):404-15.
. Emerging technologies in DNA sequencing. Genome Res. 2005 ;15(12):1767-76.
. The emerging genomics and systems biology research lead to systems genomics studies. BMC Genomics. 2014 ;15 Suppl 11(Suppl 11):I1.
. Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series. Neuro Oncol. 2018 ;20(12):1625-1633.
. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 ;24(3):631-644.
. Elimination of residual natural nucleotides from 3'-O-modified-dNTP syntheses by enzymatic mop-up. Biotechniques. 1998 ;25(5):814-7.
. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 ;101(5-6):530-540.
. An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight. 2022 ;7(23).
. Elevated expression of DNA polymerase II increases spontaneous mutagenesis in Escherichia coli. Mutat Res. 2007 ;625(1-2):29-39.
. Electrophoretically uniform fluorescent dyes for automated DNA sequencing. Science. 1996 ;271(5254):1420-2.
. Electron cryomicroscopy and computer image processing techniques : use in structure-function studies of rotavirus. Methods Mol Med. 2000 ;34:9-31.
. EGFR-T790M is a rare lung cancer susceptibility allele with enhanced kinase activity. Cancer Res. 2007 ;67(10):4665-70.
. Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies. Am J Hum Genet. 2019 ;104(2):260-274.
. Efficient isolation of targeted Caenorhabditis elegans deletion strains using highly thermostable restriction endonucleases and PCR. Nucleic Acids Res. 2002 ;30(20):e110.
. An efficient genotyper and star-allele caller for pharmacogenomics. Genome Res. 2023 ;33(1):61-70.
. Efficient gene-environment interaction tests for large biobank-scale sequencing studies. Genet Epidemiol. 2020 ;44(8):908-923.
. Effects of TP53 mutational status on gene expression patterns across 10 human cancer types. J Pathol. 2014 ;232(5):522-33.
. Effects of Gender-Specific Differences, Inflammatory Response, and Genetic Variation on the Associations Among Depressive Symptoms and the Risk of Major Adverse Coronary Events in Patients With Acute Coronary Syndrome. Biol Res Nurs. 2018 ;20(2):168-176.
. Effects of Enterococcus faecalis fsr genes on production of gelatinase and a serine protease and virulence. Infect Immun. 2000 ;68(5):2579-86.
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