Margaret A Pericak-Vance

Summary

Affiliation: Duke University Medical Center
Country: USA

Publications

  1. pmc Investigation of autism and GABA receptor subunit genes in multiple ethnic groups
    Ann L Collins
    Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    Neurogenetics 7:167-74. 2006
  2. ncbi request reprint Identification of novel genes in late-onset Alzheimer's disease
    M A Pericak-Vance
    Duke University Medical Center, North Carolina, Durham 27710, USA
    Exp Gerontol 35:1343-52. 2000
  3. 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
  4. ncbi request reprint Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease
    Kristin K Nicodemus
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Neurogenetics 5:201-8. 2004
  5. pmc A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study
    Elizabeth R Hauser
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 75:436-47. 2004
  6. ncbi request reprint Parkin mutations and susceptibility alleles in late-onset Parkinson's disease
    Sofia A Oliveira
    Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC 27710, USA
    Ann Neurol 53:624-9. 2003
  7. ncbi request reprint Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease
    Yi Ju Li
    Department of Medicine, Center for Human Genetics, Institute for Genome Science and Policy, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
    Hum Mol Genet 12:3259-67. 2003
  8. ncbi request reprint Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism
    R Keith Shuler
    Eye Center and Center for Human Genetics, Duke University, Durham, NC, USA
    Arch Ophthalmol 125:63-7. 2007
  9. ncbi request reprint Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype
    Sofia A Oliveira
    Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
    Neurogenetics 5:147-55. 2004
  10. pmc Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22
    William K Scott
    Department of Medicine, Duke University Medical Center, and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University, Durham, NC 27710, USA
    Am J Hum Genet 73:1041-51. 2003

Detail Information

Publications86

  1. pmc Investigation of autism and GABA receptor subunit genes in multiple ethnic groups
    Ann L Collins
    Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    Neurogenetics 7:167-74. 2006
    ..0253). These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype...
  2. ncbi request reprint Identification of novel genes in late-onset Alzheimer's disease
    M A Pericak-Vance
    Duke University Medical Center, North Carolina, Durham 27710, USA
    Exp Gerontol 35:1343-52. 2000
    ..Such strategies are necessary if we are to understand the subtle and complex threads that, woven together, create the intricate tapestry of AD...
  3. 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...
  4. ncbi request reprint Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease
    Kristin K Nicodemus
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Neurogenetics 5:201-8. 2004
    ..In conclusion, SNPs +5361, or a SNP in strong linkage disequilibrium, may confer some additional risk for developing AD beyond the risk due to APOE-4; however, the effect independent of APOE-4 is likely to be small...
  5. pmc A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study
    Elizabeth R Hauser
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 75:436-47. 2004
    ..These data provide initial areas of the human genome where further investigation may reveal susceptibility genes for early-onset CAD...
  6. ncbi request reprint Parkin mutations and susceptibility alleles in late-onset Parkinson's disease
    Sofia A Oliveira
    Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC 27710, USA
    Ann Neurol 53:624-9. 2003
    ..These findings suggest that mutations in Parkin contribute to the common form of PD and that heterozygous mutations, especially those lying in exon 7, act as susceptibility alleles for late-onset form of Parkinson disease...
  7. ncbi request reprint Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease
    Yi Ju Li
    Department of Medicine, Center for Human Genetics, Institute for Genome Science and Policy, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
    Hum Mol Genet 12:3259-67. 2003
    ..This is provocative given reports of the possible role of inflammation in these two neurodegenerative disorders...
  8. ncbi request reprint Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism
    R Keith Shuler
    Eye Center and Center for Human Genetics, Duke University, Durham, NC, USA
    Arch Ophthalmol 125:63-7. 2007
    ..To compare phenotypes of 2 age-related macular degeneration (AMD) susceptibility genes: LOC387715 and complement factor H (CFH)...
  9. ncbi request reprint Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype
    Sofia A Oliveira
    Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
    Neurogenetics 5:147-55. 2004
    ..02). These results define the genes and regulatory regions included in this region of LD, containing an important susceptibility allele contributing to increased risk of neurodegeneration...
  10. pmc Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22
    William K Scott
    Department of Medicine, Duke University Medical Center, and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University, Durham, NC 27710, USA
    Am J Hum Genet 73:1041-51. 2003
    ..These results indicate that linkage to chromosome 9p is strongest in late-onset AD and that regions on chromosome 2q34 and 15q22 are linked to early-onset AD and very-late-onset AD, respectively...
  11. pmc Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease
    Joelle M van der Walt
    Department of Medicine, and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 72:804-11. 2003
    ..45; 95% CI 0.22-0.93; P=.03). Our results suggest that ND3 is an important factor in PD susceptibility among white individuals and could help explain the role of complex I in PD expression...
  12. pmc Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration
    Silke Schmidt
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 78:852-64. 2006
    ..We demonstrate, for the first time, that a genetic susceptibility coupled with a modifiable lifestyle factor such as cigarette smoking confers a significantly higher risk of AMD than either factor alone...
  13. 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...
  14. pmc Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis
    Silke Schmidt
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 70:708-17. 2002
    ..03), whereas a higher proportion of APOE-2 carriers exhibit a mild disease course (P=.02)...
  15. ncbi request reprint Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration
    William K Scott
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Ophthalmology 114:1151-6. 2007
    ..To examine the potential gene-environment interaction between cigarette smoking and the complement factor H (CFH) T1277C polymorphism, 2 strong risk factors for age-related macular degeneration (AMD)...
  16. ncbi request reprint Complement factor H increases risk for atrophic age-related macular degeneration
    Eric A Postel
    Duke University Eye Center, Durham, North Carolina, USA
    Ophthalmology 113:1504-7. 2006
    ..To determine if the complement factor H gene (CFH) determines risk for development of geographic atrophy (GA)...
  17. ncbi request reprint Joint effects of smoking history and APOE genotypes in age-related macular degeneration
    Silke Schmidt
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Mol Vis 11:941-9. 2005
    ..Several studies have implicated the apolipoprotein E (APOE) gene as modulating AMD risk. The purpose of this study was to investigate whether APOE genotypes modify the smoking-associated risk of AMD...
  18. pmc Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases
    Yi Ju Li
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
    Neurobiol Aging 27:1087-93. 2006
    ..These findings suggest the presence of genetic heterogeneity for GSTO1h's effect on AAO, and support GSTO1h's role in modifying AAO in these two disorders...
  19. pmc Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease
    Joelle M van der Walt
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 74:1121-7. 2004
    ..0003), whereas a second haplotype (A-G-G-G-C) was found to be negatively associated with risk of PD (P=.0009). Our results strongly support FGF20 as a risk factor for PD...
  20. 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
    ....
  21. pmc Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease
    Sofia A Oliveira
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 77:252-64. 2005
    ..The known or putative functions of these genes fit well with the current suspected pathogenic mechanisms of PD and thus show great potential as candidates for the PARK10 locus...
  22. ncbi request reprint Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease
    Pu Ting Xu
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Neurobiol Dis 21:256-75. 2006
    ..These mechanisms may contribute increased risk for AD and for cognitive dysfunction in AD patients who carry the APOE4 allele(s)...
  23. ncbi request reprint Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration
    R Keith Shuler
    Duke University Eye Center, Durham, NC 27710, USA
    Am J Ophthalmol 145:303-307. 2008
    ..To examine phenotypes of age-related macular degeneration (AMD) patients with the LOC387715 variant (T allele at rs10490924, A69S)...
  24. ncbi request reprint Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis
    Simon G Gregory
    Center for Human Genetics, Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina 27710, USA
    Nat Genet 39:1083-91. 2007
    ..The SNP influences the amount of soluble and membrane-bound isoforms of the protein by putatively disrupting an exonic splicing silencer...
  25. pmc Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12
    Silke Schmidt
    Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    BMC Genet 5:18. 2004
    ..Chromosome-wide significance of increases in nonparametric multipoint lod scores in covariate-defined subsets relative to the overall sample was assessed by permutation...
  26. ncbi request reprint Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy
    Silke Schmidt
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Invest Ophthalmol Vis Sci 44:2868-75. 2003
    ....
  27. ncbi request reprint Parsing the genetic heterogeneity of chromosome 12q susceptibility genes for Alzheimer disease by family-based association analysis
    Ping I Lin
    Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    Neurogenetics 7:157-65. 2006
    ..0026). These results suggest that subset and covariate analyses may be one approach to help identify novel susceptibility genes on chromosome 12q for LOAD...
  28. pmc A comparative analysis of the information content in long and short SAGE libraries
    Yi Ju Li
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    BMC Bioinformatics 7:504. 2006
    ..In addition, we generated two additional short SAGE libraries, the truncated long SAGE libraries (tSAGE), from LongSAGE libraries by deleting seven 5' basepairs from each LongSAGE tag...
  29. pmc Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder
    Yujun Shao
    Center for Human Genetics, CARL Building, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 70:1058-61. 2002
    ..86 and HLOD 2.12 for marker D2S116). These data support evidence for a gene on chromosome 2 contributing to risk of AutD, and they suggest that phenotypic homogeneity increases the power to find susceptibility genes for AutD...
  30. ncbi request reprint Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease
    Maher A Noureddine
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Hum Genet 117:27-33. 2005
    ..Taken together, these results suggest a potential role for ELAVL4 as a modifier gene for AAO of PD...
  31. ncbi request reprint Analysis of European mitochondrial haplogroups with Alzheimer disease risk
    Joelle M van der Walt
    Department of Medicine, Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Neurosci Lett 365:28-32. 2004
    ..We suggest that variations within haplogroup U may be involved in AD expression in combination with environmental exposures or nuclear proteins other than APOE...
  32. pmc Early adult-onset POAG linked to 15q11-13 using ordered subset analysis
    R Rand Allingham
    Duke University Eye Center and the Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA
    Invest Ophthalmol Vis Sci 46:2002-5. 2005
    ..Ordered subset analysis (OSA) is a recently described method that utilizes the variability of phenotypic traits to determine underlying genetic heterogeneity...
  33. pmc SNPselector: a web tool for selecting SNPs for genetic association studies
    Hong Xu
    The Duke Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Bioinformatics 21:4181-6. 2005
    ..SNPselector outputs result in compressed Excel spreadsheet files for review by the user...
  34. pmc No gene is an island: the flip-flop phenomenon
    Ping I Lin
    Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    Am J Hum Genet 80:531-8. 2007
    ....
  35. ncbi request reprint Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432
    Marcy C Speer
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Neurogenetics 4:83-5. 2002
    ..We also demonstrate that five additional CMT2 families are unlinked to 19q markers, providing further evidence of CMT2 heterogeneity...
  36. ncbi request reprint Association study of Parkin gene polymorphisms with idiopathic Parkinson disease
    Sofia A Oliveira
    Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC
    Arch Neurol 60:975-80. 2003
    ..However, previous case-control studies have reported conflicting results regarding the role of more common Parkin polymorphisms as susceptibility alleles for idiopathic PD...
  37. ncbi request reprint Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families
    Eric A Postel
    Duke University Eye Center, Box 3802, Durham, NC 27710, USA
    Am J Ophthalmol 139:820-5. 2005
    ..To compare age-related macular degeneration (AMD) phenotype between probands in singleton and multiplex families to determine whether data from these two groups may be combined for consolidated genetic analyses...
  38. pmc Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing
    Abee L Boyles
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Hum Hered 59:220-7. 2005
    ..Describe the inflation in nonparametric multipoint LOD scores due to inter-marker linkage disequilibrium (LD) across many markers with varied allele frequencies...
  39. 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...
  40. pmc Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease
    Liyong Wang
    Center for Human Genetics, Department of Medicine, Duke Univeristy Medical Center, Durham, NC, USA
    Am J Hum Genet 80:650-63. 2007
    ..KALRN and two other associated genes identified in this study (CDGAP and MYLK) belong to the Rho GTPase-signaling pathway. Our data suggest the importance of the KALRN gene and the Rho GTPase-signaling pathway in the pathogenesis of CAD...
  41. pmc A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease
    Pu Ting Xu
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Mol Cell Neurosci 36:313-31. 2007
    ..These findings may help define the mechanisms that APOE4 contribute that increase risk for AD and identify new candidate genes conferring susceptibility to AD...
  42. ncbi request reprint No association between the WNT2 gene and autistic disorder
    Pinky A McCoy
    Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet 114:106-9. 2002
    ..We did not identify any activating mutation in the coding region of the WNT2 gene. Thus, we conclude that activating mutations of the WNT2 gene are not a major contributor to the development of autistic disorder in these data...
  43. ncbi request reprint Factor analysis of restricted and repetitive behaviors in autism using the Autism Diagnostic Interview-R
    Michael L Cuccaro
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Child Psychiatry Hum Dev 34:3-17. 2003
    ..Defining subgroups within autism will allow for reduction of clinical heterogeneity and enhance our ability to dissect the genetic etiology of this complex disorder...
  44. ncbi request reprint Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration
    R Keith Shuler
    Duke University Eye Center, Durham, North Carolina 27710, USA
    Ophthalmology 115:520-4. 2008
    ..To examine phenotypes of age-related macular degeneration (AMD) patients with the complement factor H (CFH) variant (Y402H, C allele at rs1061170)...
  45. ncbi request reprint The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease
    Sofia A Oliveira
    Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Box 3445, Duke University Medical Center, Durham, NC 27710, USA
    Neurosci Lett 347:143-6. 2003
    ..We found no evidence of significant association of this polymorphism with risk of AD using family-based and case-control tests of association...
  46. ncbi request reprint Maternal lineages and Alzheimer disease risk in the Old Order Amish
    Joelle M van der Walt
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Hum Genet 118:115-22. 2005
    ..Therefore, we suggest that the genetic effect responsible for AD dementia in the affected Amish pedigrees is unlikely to be of mitochondrial origin and may be caused by nuclear genetic factors...
  47. ncbi request reprint Autism in African American families: clinical-phenotypic findings
    Michael L Cuccaro
    Duke University Medical Center, Durham, NC, USA
    Am J Med Genet B Neuropsychiatr Genet 144:1022-6. 2007
    ..Such considerations will aid greatly in the search for genetic variants in autism...
  48. ncbi request reprint Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis
    Yi Ju Li
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
    Neurogenetics 5:209-13. 2004
    ..Similar to our previous report, we did not find APOE associated with ALS risk. Our findings suggest that APOE may express its strongest effect through age at onset rather than on risk...
  49. pmc myotilin Mutation found in second pedigree with LGMD1A
    Michael A Hauser
    Duke University, Durham, NC 27710, USA
    Am J Hum Genet 71:1428-32. 2002
    ..As a description of the second known pedigree with LGMD1A, this finding constitutes that gold standard of proof that mutations in the myotilin gene cause LGMD1A...
  50. pmc Overall diet quality and age-related macular degeneration
    Martha P Montgomery
    Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, NC, USA
    Ophthalmic Epidemiol 17:58-65. 2010
    ..To examine overall diet quality in relation to advanced age-related macular degeneration (AMD)...
  51. ncbi request reprint Identification of MeCP2 mutations in a series of females with autistic disorder
    Regina M Carney
    Department of Medicine and the Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Pediatr Neurol 28:205-11. 2003
    ..These data provide additional evidence of variable expression in the Rett disorder phenotype and suggest MeCP2 testing may be warranted for females presenting with autistic disorder...
  52. ncbi request reprint Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma
    Michael A Hauser
    Center for Human Genetics, Department of Ophthalmology, Duke University School of Medicine, Durham, NC, USA
    Invest Ophthalmol Vis Sci 47:2542-6. 2006
    ..To determine the distribution of WDR36 sequence variants in a cohort of patients with primary open-angle glaucoma (POAG) in the United States...
  53. ncbi request reprint Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
    Rachel V Baxter
    Center for Human Genetics, Institute of Genomic Sciences and Policy, Research Park Building II Room 105, Box 2903, Duke University Medical Center, Durham, North Carolina 27710, USA
    Nat Genet 30:21-2. 2002
    ..We found three different mutations in four different Tunisian families-two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood...
  54. ncbi request reprint A comparison of repetitive behaviors in Aspergers Disorder and high functioning autism
    Michael L Cuccaro
    Duke University Medical Center, Durham, NC, USA
    Child Psychiatry Hum Dev 37:347-60. 2007
    ..These findings add to the body of literature showing that HFA and ASP fail to differ with respect to repetitive behaviors. The implications of the findings for neurobiologic and genetic studies are discussed...
  55. ncbi request reprint Genomic screen and follow-up analysis for autistic disorder
    Yujun Shao
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet 114:99-105. 2002
    ..0) in stage two analysis. The peak lod score regions on chromosomes 2, 7, 15, 19, and X overlap previously reported peak linkage areas. The region on chromosome 3 is unique...
  56. pmc Age at onset in two common neurodegenerative diseases is genetically controlled
    Yi Ju Li
    Department of Medicine, Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 70:985-93. 2002
    ..62. These data suggest that a common gene affects AAO in these two common complex neurodegenerative diseases...
  57. ncbi request reprint Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
    Stephan Zuchner
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA
    Nat Genet 37:289-94. 2005
    ..Additionally, in the Australian and Belgian pedigrees, which carry two different mutations affecting the same amino acid, Lys558, CMT cosegregated with neutropenia, which has not previously been associated with CMT neuropathies...
  58. 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...
  59. pmc Genomic and epigenetic evidence for oxytocin receptor deficiency in autism
    Simon G Gregory
    Duke Center for Human Genetics, DUMC, Durham, NC, USA
    BMC Med 7:62. 2009
    ..Although numerous approaches have been used to identify genes implicated in the development of autism, less than 10% of autism cases have been attributed to single gene disorders...
  60. ncbi request reprint A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis
    Michelle P Winn
    Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
    Science 308:1801-4. 2005
    ..Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest an alternative mechanism for the pathogenesis of glomerular disease...
  61. ncbi request reprint Design of the Genetics of Early Onset Cardiovascular Disease (GENECARD) study
    Elizabeth R Hauser
    Duke University Medical Center, Durham, NC 27710, USA
    Am Heart J 145:602-13. 2003
    ..Early onset (premature) coronary artery disease (EOCAD) is known to have a particularly strong genetic component. However, the actual genes leading to this increased risk of CAD remain obscure...
  62. ncbi request reprint Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study
    Margaret A Pericak-Vance
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA
    Neurogenetics 5:45-8. 2004
    ..Regions on 1p34, 3p14, and 19q13 produced lod scores >0.90 in at least one subset of the data, suggesting that these regions should be examined in more detail...
  63. ncbi request reprint Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia
    Ingrid K Svenson
    Department of Molecular Genetics and Microbiology, Duke University Medical Center, P O Box 3175, Durham, NC 27710, USA
    Neurogenetics 6:135-41. 2005
    ..These data lend additional support to the emerging hypothesis that spastin plays a role in microtubule dynamics, with a crucial role in microtubule organization...
  64. ncbi request reprint Risk alleles for multiple sclerosis identified by a genomewide study
    David A Hafler
    Division of Molecular Immunology, Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital, and Harvard Medical School, Boston, USA
    N Engl J Med 357:851-62. 2007
    ..Multiple sclerosis has a clinically significant heritable component. We conducted a genomewide association study to identify alleles associated with the risk of multiple sclerosis...
  65. ncbi request reprint Haplotypes spanning the complement factor H gene are protective against age-related macular degeneration
    Kylee L Spencer
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
    Invest Ophthalmol Vis Sci 48:4277-83. 2007
    ..Besides the well-known risk imparted by carrying the Y402H variant in the complement factor H (CFH) gene on chromosome 1, recent evidence of the existence of protective haplotypes spanning CFH has been reported...
  66. pmc Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis
    Tricia A Thornton-Wells
    Biobehavioral Intervention Training Program, Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University Institute for Imaging Science, Vanderbilt University, Nashville, Tennessee 37203, USA
    Genet Epidemiol 32:187-203. 2008
    ..Further studies are needed to replicate these statistical findings and to elucidate possible biological interaction mechanisms between LRRTM3 and these genes...
  67. pmc SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach
    Jacob L McCauley
    Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN, USA
    BMC Genomics 8:266. 2007
    ..We chose annotated SNPs in the region based on location within MCSs (termed MCS-SNPs). We then obtained genotypes for 478 MCS-SNPs in 989 individuals from MS families...
  68. ncbi request reprint Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration
    Kylee L Spencer
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Hum Mol Genet 17:971-7. 2008
    ..The presence of protective haplotypes in CFH that do not carry the deletion, suggests that other protective variants in this region have yet to be discovered...
  69. pmc C3 R102G polymorphism increases risk of age-related macular degeneration
    Kylee L Spencer
    Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA
    Hum Mol Genet 17:1821-4. 2008
    ..17]. Therefore, while the strong LD between R102G and L314P makes it difficult to disentangle their individual effects on disease risk, the R102G polymorphism acting alone provides the best model for disease in our data...
  70. pmc Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration
    Jeffrey A Canter
    Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America
    PLoS ONE 3:e2091. 2008
    ..20-3.91, p = 0.01). In conclusion, a specific mitochondrial polymorphism previously implicated in other neurodegenerative phenotypes (4917G) appears to convey risk for AMD independent of recently discovered nuclear DNA polymorphisms...
  71. ncbi request reprint No association between SNP rs498055 on chromosome 10 and late-onset Alzheimer disease in multiple datasets
    Xueying Liang
    Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232 0700, USA
    Ann Hum Genet 72:141-4. 2008
    ..Thus we conclude that rs498055 is not associated with an increased risk of LOAD...
  72. ncbi request reprint Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration
    Kylee L Spencer
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA
    Hum Mol Genet 16:1986-92. 2007
    ..21, 95% confidence interval 0.11-0.39; P < 10(-4)). Likelihood ratio testing and conditional analyses in the case-control data set suggest that a weaker, independent protective effect exists for CC2 E318D...
  73. pmc Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma
    Janey L Wiggs
    Department of Ophthalmology, Harvard Medical School, Boston, MA, USA
    Arch Ophthalmol 121:1181-3. 2003
    ..To determine whether mutations in the optineurin gene contribute to susceptibility to adult-onset primary open-angle glaucoma...
  74. ncbi request reprint Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
    Stephan Zuchner
    Department of Neuropathology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany
    Nat Genet 36:449-51. 2004
  75. pmc Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions
    Daniel E Weeks
    Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA
    Am J Hum Genet 75:174-89. 2004
    ..The OSAs generate the interesting hypothesis that the effect of smoking on the risk of ARM is accentuated by a gene in the 10q26 region--a region implicated by four other studies...
  76. ncbi request reprint Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis
    Lisa F Barcellos
    Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, CA 94143 0435, USA
    Ann Neurol 55:793-800. 2004
    ..Our results provide strong evidence for linkage and association to a new candidate disease gene on chromosome 17q11 in MS and suggest that variation within NOS2A or a nearby locus contributes to disease susceptibility...
  77. ncbi request reprint Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family
    C P Venkatesh
    Minto Eye Hospital, Bangalore, India
    Mol Vis 8:294-7. 2002
    ..To describe the clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles (CFEOM) in an Indian family...
  78. ncbi request reprint Complement factor H variant increases the risk of age-related macular degeneration
    Jonathan L Haines
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Science 308:419-21. 2005
    ..45 and 5.57. This common variant likely explains approximately 43% of AMD in older adults...
  79. pmc A high-density screen for linkage in multiple sclerosis
    Stephen Sawcer
    University of Cambridge, Department of Clinical Neuroscience, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2QQ, United Kingdom
    Am J Hum Genet 77:454-67. 2005
    ....
  80. ncbi request reprint Behavioral comparisons in autistic individuals from multiplex and singleton families
    Michael L Cuccaro
    W S Hall Psychiatric Institute, Department of Neuropsychiatry, University of South Carolina, Columbia, South Carolina, USA
    J Autism Dev Disord 33:87-91. 2003
    ..These results suggests the possibility that common etiologic mechanisms, either genetic and/or environmental, could underlie all of AD...
  81. ncbi request reprint Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6
    Jonathan L Haines
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Invest Ophthalmol Vis Sci 47:329-35. 2006
    ..Identification of the underlying genes has been difficult, with both genomic screen (locational) and candidate gene (functional) approaches being used. The present study tested candidate genes for association with AMD...
  82. pmc Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish
    Jacob L McCauley
    Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN, USA
    BMC Med Genet 7:19. 2006
    ..The Amish communities located in Indiana and Ohio are relatively isolated populations that may have increased power to detect disease susceptibility genes...
  83. ncbi request reprint Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States
    Michael A Hauser
    Center for Human Genetics Duke School of Medicine, Harvard Medical School, Boston, MA 02114, USA
    J Glaucoma 15:358-63. 2006
    ....
  84. ncbi request reprint Association analysis of genetic polymorphisms in the CDC2 gene with late-onset Alzheimer disease
    Xueying Liang
    Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, USA
    Dement Geriatr Cogn Disord 23:126-32. 2007
    ..78. Biologically, CDC2, which is involved in paired helical filament-tau formation, is thought as a candidate gene in AD...
  85. ncbi request reprint Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    Peter Szatmari
    Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
    Nat Genet 39:319-28. 2007
    ..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...
  86. pmc A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set
    Tara C Matise
    Department of Genetics, Rutgers University, Piscataway, NJ, 08840, USA
    Am J Hum Genet 73:271-84. 2003
    ..Evaluations indicate that this SNP screening set is more informative than the Marshfield Clinic's commonly used microsatellite-based screening set...