Research Topics
| Jacob L McCauleySummaryAffiliation: Vanderbilt University Country: USA Publications
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Detail Information
Publications
Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlatesJacob L McCauley
Center for Human Genetics Research, Department of Molecular Physiology, Vanderbilt University, Nashville, TN, USA
BMC Med Genet 6:1. 2005..Twin and family studies point to a significant genetic etiology, and several groups have performed genomic linkage screens to identify susceptibility loci...- Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the AmishJacob 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... - SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approachJacob 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... - Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviorsJames S Sutcliffe
Center for Molecular Neuroscience, Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232 0615, USA
Am J Hum Genet 77:265-79. 2005..In the aggregate, these variants show significant linkage to and association with autism. Our data provide strong support for a collection of multiple, often rare, alleles at SLC6A4 as imposing risk of autism... - A genome-wide linkage analysis of dementia in the AmishDaniel W Hahs
Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
Am J Med Genet B Neuropsychiatr Genet 141:160-6. 2006..Our results identify regions of the genome that may harbor genes involved in a subset of dementia patients, in particular the North American Amish community... - Evidence for polygenic susceptibility to multiple sclerosis--the shape of things to comeWilliam S Bush
Vanderbilt University, USA
Am J Hum Genet 86:621-5. 2010.... - A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autismJacob L McCauley
Department of Molecular Physiology and Biophysics, Center for Human Genetics Research, Nashville, TN 37232, USA
Am J Med Genet B Neuropsychiatr Genet 131:51-9. 2004..These studies support the existence of one or more autism risk alleles in the GABA(A) receptor subunit cluster on 15q12 and have implications for analysis of LD and association in regions with high local recombination... - Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibilityRebecca L Zuvich
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232 0700, USA
Hum Genet 127:525-35. 2010..2009). These results help to further delineate the genetic architecture of MS and validate our pathway approach as an effective method to identify novel associations in a complex disease... - Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complexRebecca L Zuvich
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232 0700, USA
Hum Mol Genet 20:3517-24. 2011..These data highlight the importance of taking a closer look at the expression and function of chromosome 16p13 in the pathogenesis of MS... - Human serotonin transporter variants display altered sensitivity to protein kinase G and p38 mitogen-activated protein kinaseHarish C Prasad
Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, TN 37232 8548, USA
Proc Natl Acad Sci U S A 102:11545-50. 2005.... - A genome-wide linkage screen in the Amish with Parkinson disease points to chromosome 6Anna C Cummings
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA
Ann Hum Genet 75:351-8. 2011..The minor allele frequency in affecteds is 0.07 compared to 0.01 in unaffecteds. Taken together, these results support involvement of loci on chromosome 6 in the genetic etiology of PD... - Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosisSimon 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... - Lack of association between autism and SLC25A12Raquel 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... - Risk alleles for multiple sclerosis identified by a genomewide studyDavid 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...