Research Topics
Species | Jonathan SebatSummaryAffiliation: Cold Spring Harbor Laboratory Country: USA Publications
Research Grants
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Detail Information
Publications
Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disordersJonathan 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...- 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... 
Major changes in our DNA lead to major changes in our thinkingJonathan 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...- Large-scale copy number polymorphism in the human genomeJonathan 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... - Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophreniaVladimir 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... - Copy-number variants in patients with a strong family history of pancreatic cancerRobert 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... - Sensitive and accurate detection of copy number variants using read depth of coverageSeungtai 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... - Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variationRobert 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... - PROBER: oligonucleotide FISH probe design softwareNicholas Navin
Watson School of Biological Sciences, Cold Spring Harbor, NY 11724, USA
Bioinformatics 22:2437-8. 2006..AVAILABILITY: http://prober.cshl.edu.. - A unified genetic theory for sporadic and inherited autismXiaoyue 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.... - Distribution of short paired duplications in mammalian genomesElizabeth 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... 
High frequencies of de novo CNVs in bipolar disorder and schizophreniaDheeraj 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...- Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophreniaTom 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... - 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... - Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangementsVaidehi Jobanputra
Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA
Genet Med 7:111-8. 2005.... - Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility geneMaricela 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... - Completing the map of human genetic variationEvan E Eichler
Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
Nature 447:161-5. 2007
Research Grants
- High-Resolution ROMA Analysis of Genome Copy Number Variation in the HapMapJonathan 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 . ..
- Determining the genetic basis of autism by hi-resolution analysis of copy numberJonathan 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. ..