Research Topics
Species | Elizabeth T CirulliSummaryAffiliation: Duke University Medical Center Country: USA Publications
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Publications
Genetic and environmental correlates of topiramate-induced cognitive impairmentElizabeth T Cirulli
Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina 27708, USA
Epilepsia 53:e5-8. 2012..Our results support the need for additional genetic studies of topiramate that use larger sample sizes...
Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophreniaAnna C Need
Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA
Am J Hum Genet 91:303-12. 2012....
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsyErin L Heinzen
Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA
Am J Hum Genet 91:293-302. 2012....
A whole-genome analysis of premature termination codonsElizabeth T Cirulli
Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA
Genomics 98:337-42. 2011....
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTABAnna C Need
Center for Human Genome Variation, Institute for Genome Sciences and Policy, Duke University, 450 Research Drive, Box 91009, Durham, NC 27708, USA
Hum Mol Genet 18:4650-61. 2009..We discuss a possible role for rare variation in cognitive genomics...
Screening the human exome: a comparison of whole genome and whole transcriptome sequencingElizabeth T Cirulli
Center for Human Genome Variation, Duke University School of Medicine, Box 91009, Durham, NC 27708, USA
Genome Biol 11:R57. 2010..While whole-genome sequencing is the most complete, it remains sufficiently expensive that cost effective alternatives are important...
Common genetic variation and performance on standardized cognitive testsElizabeth T Cirulli
Center for Human Genome Variation, Duke Institute for Genome Sciences and Policy, Duke University, Durham, NC, USA
Eur J Hum Genet 18:815-20. 2010....
Using ERDS to infer copy-number variants in high-coverage genomesMingfu Zhu
Center for Human Genome Variation, Duke University, Durham, NC 27708, USA
Am J Hum Genet 91:408-21. 2012..These comparisons show that for genomes sequenced at high coverage, ERDS provides a computationally convenient method that calls CNVs as well as or better than any currently available method...
Contribution of pastimes and testing strategies to the performance of healthy volunteers on cognitive testsElizabeth T Cirulli
Center for Human Genome Variation, Duke University School of Medicine, Durham, NC, USA
Clin Neuropsychol 25:778-98. 2011..These results support the utility of querying these elements...
Inosine triphosphate protects against ribavirin-induced adenosine triphosphate loss by adenylosuccinate synthase functionYuki Hitomi
Center for Human Genome Variation, School of Medicine, Duke University, Durham, North Carolina, USA
Gastroenterology 140:1314-21. 2011..However, the biologic mechanism by which this occurs is unknown...
COMT val108/158 met genotype affects neural but not cognitive processing in healthy individualsNancy A Dennis
Center for Cognitive Neuroscience, Duke University, Durham, NC 27708, USA
Cereb Cortex 20:672-83. 2010..Taken together, the results suggest that although the COMT val108/158met genotype has no effect on cognitive behavioral measures in healthy individuals, it is associated with differences in neural process underlying cognitive output...
Host genetic determinants of T cell responses to the MRKAd5 HIV-1 gag/pol/nef vaccine in the step trialJacques Fellay
Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA
J Infect Dis 203:773-9. 2011..Furthermore, our results demonstrate the importance of considering the host immunogenetic background in the analysis of immune responses to T cell vaccines...
SVA: software for annotating and visualizing sequenced human genomesDongliang Ge
Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina 27708, USA
Bioinformatics 27:1998-2000. 2011..We illustrate the annotation features of SVA using two simple examples of sequenced genomes that harbor Mendelian mutations. Availability and implementation: Freely available on the web at http://www.svaproject.org...
Common genetic variation and the control of HIV-1 in humansJacques Fellay
Center for Human Genome Variation, Duke Institute for Genome Sciences and Policy, Duke University, Durham, North Carolina, USA
PLoS Genet 5:e1000791. 2009..This study thus represents a comprehensive assessment of common human genetic variation in HIV-1 control in Caucasians...
A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European AmericansAnna C Need
Center for Human Genome Variation, Institute for Genome Sciences and Policy, Duke University, Durham, NC 27708, USA
Genome Biol 10:R7. 2009....
Uncovering the roles of rare variants in common disease through whole-genome sequencingElizabeth T Cirulli
Center for Human Genome Variation, Duke University Medical School, Durham, North Carolina 27708, USA
Nat Rev Genet 11:415-25. 2010..Here, we evaluate the evidence for an important role of rare gene variants of major effect in common diseases and outline discovery strategies for their identification...
Failure to replicate effect of Kibra on human memory in two large cohorts of European originAnna C Need
Institute for Genome Sciences and Policy, Center for Population Genomics and Pharmacogenetics, Duke University, Durham, North Carolina 27710, USA
Am J Med Genet B Neuropsychiatr Genet 147:667-8. 2008..These results suggest that Kibra does not have a strong and general effect on human memory...
In vitro assays fail to predict in vivo effects of regulatory polymorphismsElizabeth T Cirulli
Institute for Genome Sciences and Policy, Duke University, Durham, NC 27710, USA
Hum Mol Genet 16:1931-9. 2007....
