Erin L Heinzen

Summary

Affiliation: Duke University Medical Center
Country: USA

Publications

  1. pmc Distinct neurological disorders with ATP1A3 mutations
    Erin L Heinzen
    Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA Department of Medicine, Section of Medical Genetics, Duke University, School of Medicine, Durham, NC, USA Electronic address
    Lancet Neurol 13:503-14. 2014
  2. 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
  3. pmc Genome-wide scan of copy number variation in late-onset Alzheimer's disease
    Erin L Heinzen
    Institute for Genome Sciences and Policy, Center for Human Genome Variation, Duke University Medical Center, Durham, NC 27708, USA
    J Alzheimers Dis 19:69-77. 2010
  4. pmc Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease
    Erin L Heinzen
    Institute for Genome Sciences and Policy, Center for Population Genomics and Pharmacogenetics, Duke University, Durham, NC 27710, USA
    Genome Biol 8:R32. 2007
  5. 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
  6. pmc Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium
    Qianqian Zhu
    Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA
    Am J Hum Genet 91:422-34. 2012
  7. 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
  8. 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
  9. pmc Tissue-specific genetic control of splicing: implications for the study of complex traits
    Erin L Heinzen
    Institute for Genome Sciences and Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina, USA
    PLoS Biol 6:e1. 2008
  10. pmc Utilizing population controls in rare-variant case-parent association tests
    Yu Jiang
    Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27710, USA
    Am J Hum Genet 94:845-53. 2014

Detail Information

Publications23

  1. pmc Distinct neurological disorders with ATP1A3 mutations
    Erin L Heinzen
    Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA Department of Medicine, Section of Medical Genetics, Duke University, School of Medicine, Durham, NC, USA Electronic address
    Lancet Neurol 13:503-14. 2014
    ....
  2. 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
    ....
  3. pmc Genome-wide scan of copy number variation in late-onset Alzheimer's disease
    Erin L Heinzen
    Institute for Genome Sciences and Policy, Center for Human Genome Variation, Duke University Medical Center, Durham, NC 27708, USA
    J Alzheimers Dis 19:69-77. 2010
    ..In this analysis, no new SNPs show genome-wide significance. We also screened for effects of copy number variation, and while nothing was significant, a duplication in CHRNA7 appears interesting enough to warrant further investigation...
  4. pmc Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease
    Erin L Heinzen
    Institute for Genome Sciences and Policy, Center for Population Genomics and Pharmacogenetics, Duke University, Durham, NC 27710, USA
    Genome Biol 8:R32. 2007
    ..New technology permitting the screening of alternative splice variants in microarray format was employed. Real time quantitative PCR was used to verify observed splice variant patterns...
  5. 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...
  6. pmc Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium
    Qianqian Zhu
    Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA
    Am J Hum Genet 91:422-34. 2012
    ..This method represents a useful tool for delineating causal variants by bringing together GWAS signals and the rapidly accumulating variant data from next-generation sequencing...
  7. 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
    ....
  8. 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...
  9. pmc Tissue-specific genetic control of splicing: implications for the study of complex traits
    Erin L Heinzen
    Institute for Genome Sciences and Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina, USA
    PLoS Biol 6:e1. 2008
    ....
  10. pmc Utilizing population controls in rare-variant case-parent association tests
    Yu Jiang
    Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27710, USA
    Am J Hum Genet 94:845-53. 2014
    ....
  11. 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
    ....
  12. 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...
  13. 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...
  14. 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...
  15. pmc A genome-wide comparison of the functional properties of rare and common genetic variants in humans
    Qianqian Zhu
    Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA
    Am J Hum Genet 88:458-68. 2011
    ....
  16. doi request reprint Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance
    Dongliang Ge
    Institute for Genome Sciences and Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina 27708, USA
    Nature 461:399-401. 2009
    ....
  17. pmc A genome-wide investigation of SNPs and CNVs in schizophrenia
    Anna C Need
    Institute for Genome Sciences and Policy, Duke University, Durham, North Carolina, USA
    PLoS Genet 5:e1000373. 2009
    ..On balance, these data suggest that very few schizophrenia patients share identical genomic causation, potentially complicating efforts to personalize treatment regimens...
  18. pmc Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes
    Erin L Heinzen
    Center for Human Genome Variation, School of Medicine, Duke University, Durham, NC 27708, USA
    Am J Hum Genet 86:707-18. 2010
    ..Collectively, these data implicate 16p13.11 and possibly other large deletions as risk factors for a wide range of epilepsy disorders, and they appear to point toward haploinsufficiency as a contributor to the pathogenicity of deletions...
  19. pmc Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A
    Erin L Heinzen
    Institute for Genome Sciences and Policy, Center for Population Genomics and Pharmacogenetics, Duke University, Durham, NC 27710, USA
    Am J Hum Genet 80:876-83. 2007
    ....
  20. pmc De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
    Erin L Heinzen
    Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA
    Nat Genet 44:1030-4. 2012
    ..This work identifies de novo ATP1A3 mutations as the primary cause of AHC and offers insight into disease pathophysiology by expanding the spectrum of phenotypes associated with mutations in ATP1A3...
  21. ncbi request reprint Postmortem delay has minimal effect on brain RNA integrity
    John F Ervin
    Department Medicine Neurology, Joseph and Kathleen Bryan Alzheimer s Disease Research Center, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Neuropathol Exp Neurol 66:1093-9. 2007
    ..We conclude that undegraded mRNA may be isolated from most brain regions many hours postmortem and that neither the pH of ventricular fluid nor postmortem interval is predictive of mRNA integrity...
  22. doi request reprint Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy
    Yuki Hitomi
    Duke Center for Human Genome Variation, Duke University School of Medicine, Durham, NC
    Ann Neurol 74:496-501. 2013
    ..Definitive proof of pathogenicity will require confirmation in unrelated patients...
  23. pmc Genic intolerance to functional variation and the interpretation of personal genomes
    Slave Petrovski
    Center for Human Genome Variation, Duke University, School of Medicine, Durham, North Carolina, United States of America
    PLoS Genet 9:e1003709. 2013
    ..We conclude by showing that use of an intolerance ranking system can aid in interpreting personal genomes and identifying pathogenic mutations. ..