Risultati della ricerca - Pevsner, Jonathan

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  1. 1
    The Contribution of Mosaic Variants to Autism Spectrum Disorder

    The Contribution of Mosaic Variants to Autism Spectrum Disorder di Freed, Donald, Pevsner, Jonathan

    Pubblicazione 2016
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  2. 2
    Visualization of Shared Genomic Regions and Meiotic Recombination in High-Density SNP Data

    Visualization of Shared Genomic Regions and Meiotic Recombination in High-Density SNP Data di Roberson, Elisha D. O., Pevsner, Jonathan

    Pubblicazione 2009
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  3. 3
    The biology of the mammalian Krüppel-like family of transcription factors

    The biology of the mammalian Krüppel-like family of transcription factors di Dang, Duyen T., Pevsner, Jonathan, Yang, Vincent W.

    Pubblicazione 2000
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  4. 4
    Somatic Mosaicism in the Human Genome

    Somatic Mosaicism in the Human Genome di Freed, Donald, Stevens, Eric L., Pevsner, Jonathan

    Pubblicazione 2014
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  5. 5
    Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays

    Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays di Scharpf, Robert B., Parmigiani, Giovanni, Pevsner, Jonathan, Ruczinski, Ingo

    Pubblicazione 2008
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  6. 6
    Locations and patterns of meiotic recombination in two-generation pedigrees

    Locations and patterns of meiotic recombination in two-generation pedigrees di Ting, Jason C, Roberson, Elisha DO, Currier, Duane G, Pevsner, Jonathan

    Pubblicazione 2009
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  7. 7
    Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method

    Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method di Baugher, Joseph D, Baugher, Benjamin D, Shirley, Matthew D, Pevsner, Jonathan

    Pubblicazione 2013
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  8. 8
    Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan

    Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan di Ting, Jason C, Ye, Ying, Thomas, George H, Ruczinski, Ingo, Pevsner, Jonathan

    Pubblicazione 2006
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  9. 9
    Syntaxin 7 and VAMP-7 are Soluble N-Ethylmaleimide–sensitive Factor Attachment Protein Receptors Required for Late Endosome–Lysosome and Homotypic Lysosome Fusion in Alveolar Macrophages

    Syntaxin 7 and VAMP-7 are Soluble N-Ethylmaleimide–sensitive Factor Attachment Protein Receptors Required for Late Endosome–Lysosome and Homotypic Lysosome Fusion in Alveolar Macro... di Ward, Diane McVey, Pevsner, Jonathan, Scullion, Matthew A., Vaughn, Michael, Kaplan, Jerry

    Pubblicazione 2000
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  10. 10
    Efficient Array-Based Identification of Novel Cardiac Genes through Differentiation of Mouse ESCs

    Efficient Array-Based Identification of Novel Cardiac Genes through Differentiation of Mouse ESCs di Miller, Ronald A., Christoforou, Nicolas, Pevsner, Jonathan, McCallion, Andrew S., Gearhart, John D.

    Pubblicazione 2008
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  11. 11
    Mosaicism in Human Health and Disease

    Mosaicism in Human Health and Disease di Thorpe, Jeremy, Osei-Owusu, Ikeoluwa A., Avigdor, Bracha Erlanger, Tupler, Rossella, Pevsner, Jonathan

    Pubblicazione 2020
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  12. 12
    Altered Patterns of Cellular Gene Expression in Dermal Microvascular Endothelial Cells Infected with Kaposi's Sarcoma-Associated Herpesvirus

    Altered Patterns of Cellular Gene Expression in Dermal Microvascular Endothelial Cells Infected with Kaposi's Sarcoma-Associated Herpesvirus di Poole, Lynn J., Yu, Yanxing, Kim, Peter S., Zheng, Qi-Zhi, Pevsner, Jonathan, Hayward, Gary S.

    Pubblicazione 2002
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  13. 13
    Estimating Genome-Wide Copy Number Using Allele-Specific Mixture Models

    Estimating Genome-Wide Copy Number Using Allele-Specific Mixture Models di Wang, Wenyi, Carvalho, Benilton, Miller, Nathaniel D., Pevsner, Jonathan, Chakravarti, Aravinda, Irizarry, Rafael A.

    Pubblicazione 2008
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  14. 14
    Unexpected Relationships and Inbreeding in HapMap Phase III Populations

    Unexpected Relationships and Inbreeding in HapMap Phase III Populations di Stevens, Eric L., Baugher, Joseph D., Shirley, Matthew D., Frelin, Laurence P., Pevsner, Jonathan

    Pubblicazione 2012
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  15. 15
    Genetic and genomic stability across lymphoblastoid cell line expansions

    Genetic and genomic stability across lymphoblastoid cell line expansions di Scheinfeldt, Laura B., Hodges, Kelly, Pevsner, Jonathan, Berlin, Dorit, Turan, Nahid, Gerry, Norman P.

    Pubblicazione 2018
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  16. 16
    Consanguinity in Centre d'Étude du Polymorphisme Humain (CEPH) pedigrees

    Consanguinity in Centre d'Étude du Polymorphisme Humain (CEPH) pedigrees di Stevens, Eric L, Heckenberg, Greg, Baugher, Joseph D, Roberson, Elisha DO, Downey, Thomas J, Pevsner, Jonathan

    Pubblicazione 2012
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  17. 17
    Inference of Relationships in Population Data Using Identity-by-Descent and Identity-by-State

    Inference of Relationships in Population Data Using Identity-by-Descent and Identity-by-State di Stevens, Eric L., Heckenberg, Greg, Roberson, Elisha D. O., Baugher, Joseph D., Downey, Thomas J., Pevsner, Jonathan

    Pubblicazione 2011
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  18. 18
    A Novel Variantin GABRB2 Associated with Intellectual Disability and Epilepsy

    A Novel Variantin GABRB2 Associated with Intellectual Disability and Epilepsy di Srivastava, Siddharth, Cohen, Julie, Pevsner, Jonathan, Aradhya, Swaroop, McKnight, Dianalee, Butler, Elizabeth, Johnston, Michael, Fatemi, Ali

    Pubblicazione 2014
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  19. 19
    Molecular (SNP) Analyses of Overlapping Hemizygous Deletions of 10q25.3 to 10qter in Four Patients: Evidence for HMX2 and HMX3 as Candidate Genes in Hearing and Vestibular Function

    Molecular (SNP) Analyses of Overlapping Hemizygous Deletions of 10q25.3 to 10qter in Four Patients: Evidence for HMX2 and HMX3 as Candidate Genes in Hearing and Vestibular Function di Miller, Nathaniel D., Nance, Melonie A., Wohler, Elizabeth S., Hoover-Fong, Julie E., Lisi, Emily, Thomas, George H., Pevsner, Jonathan

    Pubblicazione 2009
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  20. 20
    Identification of a mosaic activating mutation in GNA11 in atypical Sturge-Weber Syndrome

    Identification of a mosaic activating mutation in GNA11 in atypical Sturge-Weber Syndrome di Thorpe, Jeremy, Frelin, Laurence P., McCann, Meghan, Pardo, Carlos A., Cohen, Bernard A., Comi, Anne M., Pevsner, Jonathan

    Pubblicazione 2020
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