Elizabeth T Cirulli

Summary

Affiliation: Duke University Medical Center
Country: USA

Publications

  1. pmc Genetic and environmental correlates of topiramate-induced cognitive impairment
    Elizabeth T Cirulli
    Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina 27708, USA
    Epilepsia 53:e5-8. 2012
  2. pmc The characterization of twenty sequenced human genomes
    Kimberly Pelak
    Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America
    PLoS Genet 6:e1001111. 2010
  3. pmc Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia
    Anna C Need
    Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA
    Am J Hum Genet 91:303-12. 2012
  4. pmc Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy
    Erin L Heinzen
    Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA
    Am J Hum Genet 91:293-302. 2012
  5. pmc A whole-genome analysis of premature termination codons
    Elizabeth T Cirulli
    Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA
    Genomics 98:337-42. 2011
  6. pmc A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB
    Anna 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
  7. pmc Screening the human exome: a comparison of whole genome and whole transcriptome sequencing
    Elizabeth T Cirulli
    Center for Human Genome Variation, Duke University School of Medicine, Box 91009, Durham, NC 27708, USA
    Genome Biol 11:R57. 2010
  8. pmc Common genetic variation and performance on standardized cognitive tests
    Elizabeth 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
  9. doi request reprint A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with "traditional" neuropsychological testing instruments
    Patrick J Smith
    Division of Medical Psychology, Duke University School of Medicine, Durham, NC 27710, USA
    J Clin Exp Neuropsychol 35:319-28. 2013
  10. pmc Using ERDS to infer copy-number variants in high-coverage genomes
    Mingfu Zhu
    Center for Human Genome Variation, Duke University, Durham, NC 27708, USA
    Am J Hum Genet 91:408-21. 2012

Detail Information

Publications20

  1. pmc Genetic and environmental correlates of topiramate-induced cognitive impairment
    Elizabeth 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...
  2. pmc The characterization of twenty sequenced human genomes
    Kimberly Pelak
    Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America
    PLoS Genet 6:e1001111. 2010
    ..Finally, we find that, on average, each genome carries 165 homozygous protein-truncating or stop loss variants in genes representing a diverse set of pathways...
  3. pmc Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia
    Anna C Need
    Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA
    Am J Hum Genet 91:303-12. 2012
    ....
  4. pmc Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy
    Erin L Heinzen
    Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA
    Am J Hum Genet 91:293-302. 2012
    ....
  5. pmc A whole-genome analysis of premature termination codons
    Elizabeth T Cirulli
    Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA
    Genomics 98:337-42. 2011
    ....
  6. pmc A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB
    Anna 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...
  7. pmc Screening the human exome: a comparison of whole genome and whole transcriptome sequencing
    Elizabeth 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...
  8. pmc Common genetic variation and performance on standardized cognitive tests
    Elizabeth 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
    ....
  9. doi request reprint A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with "traditional" neuropsychological testing instruments
    Patrick J Smith
    Division of Medical Psychology, Duke University School of Medicine, Durham, NC 27710, USA
    J Clin Exp Neuropsychol 35:319-28. 2013
    ..Correlations between CANTAB subtests and traditional subtests were less consistent when age and education were controlled for. In conclusion, the CANTAB shows modest associations with traditional neuropsychological test measures...
  10. pmc Using ERDS to infer copy-number variants in high-coverage genomes
    Mingfu 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...
  11. doi request reprint Contribution of pastimes and testing strategies to the performance of healthy volunteers on cognitive tests
    Elizabeth 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...
  12. doi request reprint Inosine triphosphate protects against ribavirin-induced adenosine triphosphate loss by adenylosuccinate synthase function
    Yuki 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...
  13. pmc COMT val108/158 met genotype affects neural but not cognitive processing in healthy individuals
    Nancy 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...
  14. pmc Host genetic determinants of T cell responses to the MRKAd5 HIV-1 gag/pol/nef vaccine in the step trial
    Jacques 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...
  15. pmc SVA: software for annotating and visualizing sequenced human genomes
    Dongliang 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...
  16. pmc Common genetic variation and the control of HIV-1 in humans
    Jacques 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...
  17. pmc A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European Americans
    Anna C Need
    Center for Human Genome Variation, Institute for Genome Sciences and Policy, Duke University, Durham, NC 27708, USA
    Genome Biol 10:R7. 2009
    ....
  18. doi request reprint Uncovering the roles of rare variants in common disease through whole-genome sequencing
    Elizabeth 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...
  19. ncbi request reprint Failure to replicate effect of Kibra on human memory in two large cohorts of European origin
    Anna 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...
  20. ncbi request reprint In vitro assays fail to predict in vivo effects of regulatory polymorphisms
    Elizabeth T Cirulli
    Institute for Genome Sciences and Policy, Duke University, Durham, NC 27710, USA
    Hum Mol Genet 16:1931-9. 2007
    ....