James S Sutcliffe

Summary

Affiliation: Vanderbilt University
Country: USA

Publications

  1. pmc Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures
    James S Sutcliffe
    Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, USA
    BMC Genomics 4:15. 2003
  2. ncbi request reprint Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene
    Peter Hedera
    Department of Neurology, Program in Human Genetics, Vanderbilt University, Nashville, Tennessee 37232 8552, USA
    Epilepsia 45:218-22. 2004
  3. pmc Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism
    Sarah Cross
    Pritzker School of Medicine, University of Chicago, Chicago, IL, USA
    Neuropsychopharmacology 33:353-60. 2008
  4. pmc Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse
    Jeremy Veenstra-Vanderweele
    Departments of Psychiatry, Vanderbilt University School of Medicine, Nashville, TN 37232 8548, USA
    J Neurodev Disord 1:158-71. 2009
  5. pmc Common genetic variants, acting additively, are a major source of risk for autism
    Lambertus Klei
    Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
    Mol Autism 3:9. 2012
  6. doi request reprint Genetics. Insights into the pathogenesis of autism
    James S Sutcliffe
    Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232 8548, USA
    Science 321:208-9. 2008
  7. pmc Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors
    James 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
  8. doi request reprint Affiliative behaviors and beyond: it's the phenotype, stupid
    James S Sutcliffe
    Center for Molecular Neuroscience and Vanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee 37232, USA
    Biol Psychiatry 63:909-10. 2008
  9. ncbi request reprint A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism
    Jacob 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
  10. pmc Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder
    Daniel B Campbell
    Department of Pharmacology, Vanderbilt University, Nashville, Tennessee 37232, USA
    Autism Res 1:159-68. 2008

Detail Information

Publications33

  1. pmc Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures
    James S Sutcliffe
    Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, USA
    BMC Genomics 4:15. 2003
    ..The gene encoding an amyloid precursor protein-binding protein (APBA2) was previously mapped to the distal portion of the interval commonly deleted in Prader-Willi and Angelman syndromes and duplicated in cases of autism...
  2. ncbi request reprint Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene
    Peter Hedera
    Department of Neurology, Program in Human Genetics, Vanderbilt University, Nashville, Tennessee 37232 8552, USA
    Epilepsia 45:218-22. 2004
    ..ADLTE is characterized by partial seizures with symptoms suggestive of a lateral temporal onset, including frequent auditory aura. Here we report the results of clinical and genetic analyses of two newly identified families with ADTLE...
  3. pmc Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism
    Sarah Cross
    Pritzker School of Medicine, University of Chicago, Chicago, IL, USA
    Neuropsychopharmacology 33:353-60. 2008
    ..046). These initial studies of indices of the 5-HT system with several single-nucleotide polymorphisms at loci in this system generate hypotheses for testing in other samples...
  4. pmc Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse
    Jeremy Veenstra-Vanderweele
    Departments of Psychiatry, Vanderbilt University School of Medicine, Nashville, TN 37232 8548, USA
    J Neurodev Disord 1:158-71. 2009
    ..We discuss both the opportunities and challenges that await the physiological/behavioral analysis of Gly56Ala transgenic mice, with particular reference to modeling autism-associated traits...
  5. pmc Common genetic variants, acting additively, are a major source of risk for autism
    Lambertus Klei
    Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
    Mol Autism 3:9. 2012
    ..abstract:..
  6. doi request reprint Genetics. Insights into the pathogenesis of autism
    James S Sutcliffe
    Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232 8548, USA
    Science 321:208-9. 2008
  7. pmc Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors
    James 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...
  8. doi request reprint Affiliative behaviors and beyond: it's the phenotype, stupid
    James S Sutcliffe
    Center for Molecular Neuroscience and Vanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee 37232, USA
    Biol Psychiatry 63:909-10. 2008
  9. ncbi request reprint A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism
    Jacob 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...
  10. pmc Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder
    Daniel B Campbell
    Department of Pharmacology, Vanderbilt University, Nashville, Tennessee 37232, USA
    Autism Res 1:159-68. 2008
    ..These data further support our hypothesis that genetic susceptibility impacting multiple components of the MET signaling pathway contributes to ASD risk...
  11. ncbi request reprint Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions
    Daniel B Campbell
    Vanderbilt University, 8114 MRB3, 465 21st Ave South, Nashville, TN 37232, USA
    Pediatrics 123:1018-24. 2009
    ....
  12. pmc Enhanced activity of human serotonin transporter variants associated with autism
    Harish C Prasad
    Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, TN 37232 8548, USA
    Philos Trans R Soc Lond B Biol Sci 364:163-73. 2009
    ..When expressed stably from the same genomic locus in CHO cells, both Gly56Ala and Ile425Leu display catalytic activation, accompanied by a striking loss of SERT protein...
  13. doi request reprint Association of MET with social and communication phenotypes in individuals with autism spectrum disorder
    Daniel B Campbell
    Department of Pharmacology, Vanderbilt University, Nashville, Tennessee, USA
    Am J Med Genet B Neuropsychiatr Genet 153:438-46. 2010
    ..These data indicate that the MET C allele influences at least two of the three domains of the autism triad...
  14. pmc Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes
    Holli B Hutcheson
    Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN 37027, USA
    BMC Med Genet 5:12. 2004
    ....
  15. ncbi request reprint Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures
    Shaochun Ma
    Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
    Neurosci Lett 394:74-8. 2006
    ..We conclude that these genes are not a major genetic factor in familial TLE preceded by FS...
  16. pmc Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates
    Jacob 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...
  17. pmc A genetic variant that disrupts MET transcription is associated with autism
    Daniel B Campbell
    Department of Pharmacology, Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN 37203, USA
    Proc Natl Acad Sci U S A 103:16834-9. 2006
    ..These data implicate reduced MET gene expression in autism susceptibility, providing evidence of a previously undescribed pathophysiological basis for this behaviorally and medically complex disorder...
  18. pmc The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures
    Shaochun Ma
    Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232 8552, USA
    BMC Med Genet 6:13. 2005
    ..We attempted to replicate this study in our cohort of patients with TLE. Furthermore, we also analyzed the coding sequence of this gene and searched for disease-causing mutations...
  19. pmc Human serotonin transporter variants display altered sensitivity to protein kinase G and p38 mitogen-activated protein kinase
    Harish 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
    ....
  20. pmc Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior
    Jeremy Veenstra-Vanderweele
    Department of Psychiatry, Vanderbilt University, Nashville, TN 37232, USA
    Proc Natl Acad Sci U S A 109:5469-74. 2012
    ....
  21. ncbi request reprint Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13
    Erika L Nurmi
    Medical Scientist Training Program, Vanderbilt University, Nashville, TN 37232 0615, USA
    J Am Acad Child Adolesc Psychiatry 42:856-63. 2003
    ..One approach to identifying susceptibility loci under these conditions is to define more homogeneous subsets of families on the basis of genetically relevant phenotypic or biological characteristics that vary from case to case...
  22. pmc Colocalization and regulated physical association of presynaptic serotonin transporters with A₃ adenosine receptors
    Chong Bin Zhu
    Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
    Mol Pharmacol 80:458-65. 2011
    ....
  23. ncbi request reprint Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues
    Elisabeth M Dykens
    Department of Psychology and Human Development, Vanderbilt Kennedy Center for Research on Human Development, 230 Appleton Place, Peabody Box 40, Nashville, TN 37203, USA
    Ment Retard Dev Disabil Res Rev 10:284-91. 2004
    ....
  24. ncbi request reprint Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism
    James S Sutcliffe
    Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, USA
    J Am Acad Child Adolesc Psychiatry 42:253-6. 2003
  25. doi request reprint Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping "rapidly"?
    Zachary Warren
    Department of Pediatrics, Vanderbilt University, Nashville, Tennessee, USA
    Autism Res 5:31-8. 2012
    ..These data support the continued need of expert clinical validation in combination with rapid phenotyping procedures in order to accurately amass large-scale genetic collections of children with ASD...
  26. pmc Genetic analysis of biological pathway data through genomic randomization
    Brian L Yaspan
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Hum Genet 129:563-71. 2011
    ..Using the KEGG database as an example, we apply PARIS to the publicly available Autism Genetic Resource Exchange GWAS dataset, revealing pathways with a significant enrichment of positive association results...
  27. pmc Contribution of SHANK3 mutations to autism spectrum disorder
    Rainald Moessner
    The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, M5G 1L7, Canada
    Am J Hum Genet 81:1289-97. 2007
    ..The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing...
  28. 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...
  29. ncbi request reprint Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility
    Lauren A Weiss
    Department of Human Genetics, The University of Chicago, Chicago, IL, USA
    Eur J Hum Genet 14:923-31. 2006
    ..010 and 0.015). Lastly, we show that a coding variant of ITGB3 is associated with autism susceptibility in a large multiplex sample (P = 0.00082), and that this variation has different effects in males and females (P = 0.0018)...
  30. pmc Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    Heather C Mefford
    University of Washington School of Medicine, Seattle 98195, USA
    N Engl J Med 359:1685-99. 2008
    ..Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients...
  31. pmc Strong association of de novo copy number mutations with autism
    Jonathan Sebat
    Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA
    Science 316:445-9. 2007
    ..Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized...
  32. 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...
  33. 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
    ....