Jonathan Sebat

Summary

Affiliation: Cold Spring Harbor Laboratory
Country: USA

Publications

  1. pmc Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders
    Jonathan Sebat
    Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA
    Trends Genet 25:528-35. 2009
  2. 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
  3. ncbi request reprint Major changes in our DNA lead to major changes in our thinking
    Jonathan Sebat
    Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, New York 11724, USA
    Nat Genet 39:S3-5. 2007
  4. ncbi request reprint Large-scale copy number polymorphism in the human genome
    Jonathan Sebat
    Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA
    Science 305:525-8. 2004
  5. ncbi request reprint Copy-number variants in patients with a strong family history of pancreatic cancer
    Robert Lucito
    Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
    Cancer Biol Ther 6:1592-9. 2007
  6. ncbi request reprint PROBER: oligonucleotide FISH probe design software
    Nicholas Navin
    Watson School of Biological Sciences, Cold Spring Harbor, NY 11724, USA
    Bioinformatics 22:2437-8. 2006
  7. pmc Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
    Vladimir Vacic
    Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 12824, USA
    Nature 471:499-503. 2011
  8. pmc Sensitive and accurate detection of copy number variants using read depth of coverage
    Seungtai Yoon
    Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA
    Genome Res 19:1586-92. 2009
  9. pmc Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation
    Robert Lucito
    Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA
    Genome Res 13:2291-305. 2003
  10. pmc A unified genetic theory for sporadic and inherited autism
    Xiaoyue Zhao
    Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA
    Proc Natl Acad Sci U S A 104:12831-6. 2007

Detail Information

Publications17

  1. pmc Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders
    Jonathan Sebat
    Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA
    Trends Genet 25:528-35. 2009
    ..Research strategies must account for both genetic and clinical heterogeneity to identify the genes and pathways crucial for the development of neuropsychiatric disorders...
  2. 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...
  3. ncbi request reprint Major changes in our DNA lead to major changes in our thinking
    Jonathan Sebat
    Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, New York 11724, USA
    Nat Genet 39:S3-5. 2007
    ..New approaches are needed to understand the contribution of structural variants to disease...
  4. ncbi request reprint Large-scale copy number polymorphism in the human genome
    Jonathan Sebat
    Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA
    Science 305:525-8. 2004
    ..We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease...
  5. ncbi request reprint Copy-number variants in patients with a strong family history of pancreatic cancer
    Robert Lucito
    Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
    Cancer Biol Ther 6:1592-9. 2007
    ..Selected deletions and amplifications were confirmed using real-time PCR, including a germ-line amplification on chromosome 19. These genetic copy-number variants define potential candidate loci for the familial pancreatic cancer gene...
  6. ncbi request reprint PROBER: oligonucleotide FISH probe design software
    Nicholas Navin
    Watson School of Biological Sciences, Cold Spring Harbor, NY 11724, USA
    Bioinformatics 22:2437-8. 2006
    ..To test the software, we designed a number of probes for genomic amplifications and hemizygous deletions that were initially detected by Representational Oligonucleotide Microarray Analysis of breast cancer tumors...
  7. pmc Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
    Vladimir Vacic
    Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 12824, USA
    Nature 471:499-503. 2011
    ..3. These findings implicate altered vasoactive intestinal peptide signalling in the pathogenesis of schizophrenia and indicate the VPAC2 receptor as a potential target for the development of new antipsychotic drugs...
  8. pmc Sensitive and accurate detection of copy number variants using read depth of coverage
    Seungtai Yoon
    Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA
    Genome Res 19:1586-92. 2009
    ..Our results suggest that analysis of read depth is an effective approach for the detection of CNVs, and it captures structural variants that are refractory to established PEM-based methods...
  9. pmc Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation
    Robert Lucito
    Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA
    Genome Res 13:2291-305. 2003
    ..Many of these changes encompass known genes. ROMA will assist in the discovery of genes and markers important in cancer, and the discovery of loci that may be important in inherited predispositions to disease...
  10. pmc A unified genetic theory for sporadic and inherited autism
    Xiaoyue Zhao
    Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA
    Proc Natl Acad Sci U S A 104:12831-6. 2007
    ....
  11. pmc Distribution of short paired duplications in mammalian genomes
    Elizabeth E Thomas
    Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA
    Proc Natl Acad Sci U S A 101:10349-54. 2004
    ..A mechanism that generates short local duplications while conserving polarity could have a profound impact on the evolution of regulatory and protein-coding sequences...
  12. doi request reprint High frequencies of de novo CNVs in bipolar disorder and schizophrenia
    Dheeraj Malhotra
    Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 92093, USA
    Neuron 72:951-63. 2011
    ..0 [1.5,16.8], p = 0.007). Our results suggest that rare spontaneous mutations are an important contributor to risk for bipolar disorder and other major neuropsychiatric diseases...
  13. doi request reprint Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Science 320:539-43. 2008
    ..These results suggest that multiple, individually rare mutations altering genes in neurodevelopmental pathways contribute to schizophrenia...
  14. 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...
  15. ncbi request reprint Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements
    Vaidehi Jobanputra
    Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA
    Genet Med 7:111-8. 2005
    ..To demonstrate the accuracy and sensitivity of Representational Oligonucleotide Microarray Analysis (ROMA) to describe copy number changes in patients with chromosomal abnormalities...
  16. pmc Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
    Maricela Alarcon
    UCLA Center for Autism Research and Treatment, Semel Institute of Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Am J Hum Genet 82:150-9. 2008
    ..Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures...
  17. pmc Completing the map of human genetic variation
    Evan E Eichler
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Nature 447:161-5. 2007

Research Grants8

  1. High-Resolution ROMA Analysis of Genome Copy Number Variation in the HapMap
    Jonathan Sebat; Fiscal Year: 2007
    ..All information on copy number variation will be made available through dbSNP and raw microarray data will be made available from www.hapmap.org . ..
  2. Determining the genetic basis of autism by hi-resolution analysis of copy number
    Jonathan Sebat; Fiscal Year: 2009
    ..Recognition of specific disorders of the autism spectrum caused by small copy number polymorphisms will improve treatment and prognosis, as well as genetic counseling for families with autism. ..