Publications
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The effect of dietary fat intake on hepatic gene expression in LG/J AND SM/J mice. BMC Genomics. 2014 ;15:99.
. Effects of TP53 mutational status on gene expression patterns across 10 human cancer types. J Pathol. 2014 ;232(5):522-33.
. . Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 ;16(5):386-394.
. The Enterococcus faecalis fsrB gene, a key component of the fsr quorum-sensing system, is associated with virulence in the rabbit endophthalmitis model. Infect Immun. 2002 ;70(8):4678-81.
. Empowering personalized pharmacogenomics with generative AI solutions. J Am Med Inform Assoc. 2024 ;.
. Evaluating the context-dependent effect of family history of stroke in a genome scan for hypertension. Stroke. 2003 ;34(5):1170-5.
. Electrophoretically uniform fluorescent dyes for automated DNA sequencing. Science. 1996 ;271(5254):1420-2.
. Elimination of residual natural nucleotides from 3'-O-modified-dNTP syntheses by enzymatic mop-up. Biotechniques. 1998 ;25(5):814-7.
. Emerging technologies in DNA sequencing. Genome Res. 2005 ;15(12):1767-76.
. The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res. 2016 ;26(9):1165-9.
. Expression profiling using human tissues in combination with RNA amplification and microarray analysis: assessment of Langerhans cell histiocytosis. Amino Acids. 2005 ;28(3):279-90.
. EYS-Associated Sector Retinitis Pigmentosa. Graefes Arch Clin Exp Ophthalmol. 2022 ;260(4):1405-1413.
. Editorial: Neurogenetic disorders: from the tests to the clinic. Front Neurol. 2023 ;14:1236350.
. Escherichia coli cells bearing mutA, a mutant glyV tRNA gene, express a recA-dependent error-prone DNA replication activity. Mol Microbiol. 1999 ;33(4):732-40.
. The Escherichia coli UVM response is accompanied by an SOS-independent error-prone DNA replication activity demonstrable in vitro. Mol Microbiol. 2000 ;38(2):368-80.
. Escherichia coli DNA polymerase II can efficiently bypass 3,N(4)-ethenocytosine lesions in vitro and in vivo. Mutat Res. 2006 ;593(1-2):164-76.
. Elevated expression of DNA polymerase II increases spontaneous mutagenesis in Escherichia coli. Mutat Res. 2007 ;625(1-2):29-39.
. Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med. 2013 ;5(6):57.
. Evaluation of mitochondrial DNA copy number estimation techniques. PLoS One. 2020 ;15(1):e0228166.
. Estimating population genetic parameters and comparing model goodness-of-fit using DNA sequences with error. Genome Res. 2010 ;20(1):101-9.
. Exome-wide association study of plasma lipids in >300,000 individuals. Nat Genet. 2017 ;49(12):1758-1766.
. Evolutionary traces of functional surfaces along G protein signaling pathway. Methods Enzymol. 2002 ;344:536-56.
. Exome variant discrepancies due to reference-genome differences. Am J Hum Genet. 2021 ;108(7):1239-1250.
. Earth BioGenome Project: Sequencing life for the future of life. Proc Natl Acad Sci U S A. 2018 ;115(17):4325-4333.
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