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Genomes and Genes | James S SutcliffeSummaryAffiliation: Vanderbilt University Country: USA Publications
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Publications
Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structuresJames 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...
Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 genePeter 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...- Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autismSarah 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... - Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouseJeremy 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... - Affiliative behaviors and beyond: it's the phenotype, stupidJames S Sutcliffe
Center for Molecular Neuroscience and Vanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee 37232, USA
Biol Psychiatry 63:909-10. 2008 - Genetics. Insights into the pathogenesis of autismJames S Sutcliffe
Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232-8548, USA
Science 321:208-9. 2008 - 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 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... 
Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditionsDaniel B Campbell
Vanderbilt University, 8114 MRB3, 465 21st Ave South, Nashville, TN 37232, USA
Pediatrics 123:1018-24. 2009....- Enhanced activity of human serotonin transporter variants associated with autismHarish 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... - Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorderDaniel 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... - Association of MET with social and communication phenotypes in individuals with autism spectrum disorderDaniel 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... - Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genesHolli 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.... - Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizuresShaochun 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... - 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... - A genetic variant that disrupts MET transcription is associated with autismDaniel 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... - The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizuresShaochun 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... - 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.... - Colocalization and regulated physical association of presynaptic serotonin transporters with A₃ adenosine receptorsChong Bin Zhu
Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
Mol Pharmacol 80:458-65. 2011.... - Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13Erika L Nurmi
Medical Scientist Training Program, Vanderbilt University, Nashville, TN 37232-0615, USA
J Am Acad Child Adolesc Psychiatry 42:856-63. 2003..Similar types of skills have been noted in individuals with Prader-Willi syndrome, which results from deletions of this chromosomal region... - Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behaviorJeremy Veenstra-Vanderweele
Department of Psychiatry, Vanderbilt University, Nashville, TN 37232, USA
Proc Natl Acad Sci U S A 109:5469-74. 2012.... - Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issuesElisabeth 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.... - Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autismJames S Sutcliffe
Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, USA
J Am Acad Child Adolesc Psychiatry 42:253-6. 2003 - 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... - Genetic analysis of biological pathway data through genomic randomizationBrian 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... - 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... - Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibilityLauren 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)... - Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather 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... - Strong association of de novo copy number mutations with autismJonathan 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... - Contribution of SHANK3 mutations to autism spectrum disorderRainald 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... - Mapping autism risk loci using genetic linkage and chromosomal rearrangementsPeter 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... - Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genesRaquel 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....