A E Ashley Koch

Summary

Affiliation: Duke University Medical Center
Country: USA

Publications

  1. ncbi request reprint Genetic polymorphisms associated with priapism in sickle cell disease
    Laine Elliott
    Department of Medicine, Duke University and VA Medical Centers, Durham, NC 27710, USA
    Br J Haematol 137:262-7. 2007
  2. pmc Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates
    Christina A Markunas
    Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA
    PLoS ONE 8:e61521. 2013
  3. pmc Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease
    Allison E Ashley-Koch
    Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
    Blood 111:5721-6. 2008
  4. ncbi request reprint Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk
    Allison E Ashley-Koch
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, Snyderman Genomic Sciences Building, Durham, NC 27710, USA
    Psychiatr Genet 17:221-6. 2007
  5. ncbi request reprint An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder
    A E Ashley-Koch
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
    Ann Hum Genet 70:281-92. 2006
  6. pmc Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism
    D Q Ma
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 77:377-88. 2005
  7. ncbi request reprint Analysis of the RELN gene as a genetic risk factor for autism
    D A Skaar
    Department of Medicine, Center for Human Genetics, IGSP, Duke University Medical Center, Durham, NC, USA
    Mol Psychiatry 10:563-71. 2005
  8. ncbi request reprint An autosomal genomic screen for dementia in an extended Amish family
    A E Ashley-Koch
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, 595 La Salle Street, Box 3445, Durham, NC 27710, USA
    Neurosci Lett 379:199-204. 2005
  9. ncbi request reprint Lack of association between autism and SLC25A12
    Raquel Rabionet
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, 595 LaSalle St, Durham, NC 27710, USA
    Am J Psychiatry 163:929-31. 2006
  10. pmc Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia
    I K Svenson
    Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 68:1077-85. 2001

Collaborators

Detail Information

Publications21

  1. ncbi request reprint Genetic polymorphisms associated with priapism in sickle cell disease
    Laine Elliott
    Department of Medicine, Duke University and VA Medical Centers, Durham, NC 27710, USA
    Br J Haematol 137:262-7. 2007
    ..Our data suggest that genes involved in the TGFbeta pathway, coagulation, cell adhesion and cell hydration pathways may be important in risk for priapism...
  2. pmc Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates
    Christina A Markunas
    Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA
    PLoS ONE 8:e61521. 2013
    ....
  3. pmc Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease
    Allison E Ashley-Koch
    Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
    Blood 111:5721-6. 2008
    ..These findings may offer new promise for identifying patients at risk for pHTN, developing new therapeutic targets, and reducing the occurrence of this life-threatening SCD complication...
  4. ncbi request reprint Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk
    Allison E Ashley-Koch
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, Snyderman Genomic Sciences Building, Durham, NC 27710, USA
    Psychiatr Genet 17:221-6. 2007
    ..RELN shares a common biological pathway with APOE, and Persico et al. have observed transmission distortion of the APOE-2 allele in autism families...
  5. ncbi request reprint An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder
    A E Ashley-Koch
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
    Ann Hum Genet 70:281-92. 2006
    ..However, the consistency of results across analyses suggests that we have defined a useful framework for evaluating gene-gene interactions...
  6. pmc Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism
    D Q Ma
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 77:377-88. 2005
    ..These results support the hypothesis that GABA receptor subunit genes are involved in autism, most likely via complex gene-gene interactions...
  7. ncbi request reprint Analysis of the RELN gene as a genetic risk factor for autism
    D A Skaar
    Department of Medicine, Center for Human Genetics, IGSP, Duke University Medical Center, Durham, NC, USA
    Mol Psychiatry 10:563-71. 2005
    ..The most significant association identified from this combined data set was for the 5'-UTR repeat (PDT P-value=0.002). These analyses show the potential of RELN as an important contributor to genetic risk in autism...
  8. ncbi request reprint An autosomal genomic screen for dementia in an extended Amish family
    A E Ashley-Koch
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, 595 La Salle Street, Box 3445, Durham, NC 27710, USA
    Neurosci Lett 379:199-204. 2005
    ..These loci are currently under further investigation in a study of LOAD including additional Amish families...
  9. ncbi request reprint Lack of association between autism and SLC25A12
    Raquel Rabionet
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, 595 LaSalle St, Durham, NC 27710, USA
    Am J Psychiatry 163:929-31. 2006
    ..This study aimed to test for association in SLC25A12 in an independent data set of 327 families with autistic offspring...
  10. pmc Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia
    I K Svenson
    Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 68:1077-85. 2001
    ..The lack of full genomic sequence context in these constructs can mask important functional consequences of the mutation...
  11. pmc Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31
    Stephan Zuchner
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 79:365-9. 2006
    ..We show that REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease...
  12. pmc Central nervous system serotonin and clustering of hostility, psychosocial, metabolic, and cardiovascular endophenotypes in men
    Redford B Williams
    Department of Psychiatry, Duke University Medical Center, Durham, NC 27710, USA
    Psychosom Med 72:601-7. 2010
    ....
  13. pmc Effects of postnatal parental smoking on parent and teacher ratings of ADHD and oppositional symptoms
    Scott H Kollins
    Department of Psychiatry, Duke University Medical Center, Durham, North Carolina 27705, USA
    J Nerv Ment Dis 197:442-9. 2009
    ..The risk of maternal smoking for the development of ADHD symptoms does not end during pregnancy. Research on the mechanisms underlying the observed associations is needed...
  14. pmc Interactions between genotype and depressive symptoms on obesity
    Bernard F Fuemmeler
    Duke University Medical Center, Durham, NC, USA
    Behav Genet 39:296-305. 2009
    ..48; 95% CI 0.26-0.89). No similar effect was observed among females. These findings highlight that the obesity-depression relationship may vary as a function of gender and genetic polymorphism, and suggest the need for further study...
  15. pmc Genes implicated in serotonergic and dopaminergic functioning predict BMI categories
    Bernard F Fuemmeler
    Department of Community and Family Medicine, Duke University Medical Center, Durham, NC, USA
    Obesity (Silver Spring) 16:348-55. 2008
    ..Interactions with gender and race/ethnicity were also examined...
  16. doi request reprint Interactions between genotype and retrospective ADHD symptoms predict lifetime smoking risk in a sample of young adults
    F Joseph McClernon
    Department of Psychiatry and Behavioral Sciences, Duke University Medical Cneter, Durham, NC 27708, USA
    Nicotine Tob Res 10:117-27. 2008
    ..We observed neither main effects nor interactions with CYP2A6, DAT, and SLC6A4 genes. These findings suggest that genotypes associated with catecholamine neurotransmission interact with ADHD symptoms to contribute to smoking risk...
  17. pmc Impact of psychological stress on the associations between apolipoprotein E variants and metabolic traits: findings in an American sample of caregivers and controls
    Sofia I Iqbal Kring
    Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, NC 27705, USA
    Psychosom Med 72:427-33. 2010
    ..Current evidence supports the hypothesis that gene-environment interactions modulate serum lipid concentrations...
  18. ncbi request reprint Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations
    Ingrid K Svenson
    Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA
    Neurogenetics 5:157-64. 2004
    ..Our identification of S44L and P45Q as modifiers of the HSP phenotype suggests a role for spastin phosphorylation by Cdks in the neurodegeneration of the most-common form of HSP...
  19. ncbi request reprint Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes
    Raquel Rabionet
    Department of Medicine, Center for Human Genetics, 595 LaSalle St, Box 3445, Duke University Medical Center, Durham, NC 27710, USA
    Neurosci Lett 372:209-14. 2004
    ....
  20. pmc Genetic variants in SLC9A9 are associated with measures of attention-deficit/hyperactivity disorder symptoms in families
    Christina A Markunas
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
    Psychiatr Genet 20:73-81. 2010
    ..Based on this report, these genes were selected to be evaluated in a family-based attention-deficit/hyperactivity disorder (AD/HD) association study...
  21. ncbi request reprint A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12
    Stephan Zuchner
    Neurogenetics 7:127-9. 2006