Search Results - Michael O. Dorschner

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  1. 1
    NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

    NF1 microdeletion breakpoints are clustered at flanking repetitive sequences by Michael O. Dorschner

    Published 2000
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  2. 2
    Oct4 dependence of chromatin structure within the extended Nanog locus in ES cells

    Oct4 dependence of chromatin structure within the extended Nanog locus in ES cells by Dana N. Levasseur, Jianlong Wang, Michael O. Dorschner, J Stamatoyannopoulos, Stuart H. Orkin

    Published 2008
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  3. 3
    Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-γ

    Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-γ by Jamie Schoenborn, Michael O. Dorschner, Masayuki Sekimata, Deanna M. Santer, Maria Shnyreva, David Fitzpatrick, J Stamatoyannopoulos, Christopher Wilson

    Published 2007
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  4. 4
    Genome-wide identification of DNaseI hypersensitive sites using active chromatin sequence libraries

    Genome-wide identification of DNaseI hypersensitive sites using active chromatin sequence libraries by Peter J. Sabo, Richard Humbert, Michael Hawrylycz, James C. Wallace, Michael O. Dorschner, Michael McArthur, J Stamatoyannopoulos

    Published 2004
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  5. 5
    CCCTC-Binding Factor and the Transcription Factor T-bet Orchestrate T Helper 1 Cell-Specific Structure and Function at the Interferon-γ Locus

    CCCTC-Binding Factor and the Transcription Factor T-bet Orchestrate T Helper 1 Cell-Specific Structure and Function at the Interferon-γ Locus by Masayuki Sekimata, Mercedes Pérez‐Melgosa, Sara A. Miller, Amy S. Weinmann, Peter J. Sabo, Richard Sandstrom, Michael O. Dorschner, J Stamatoyannopoulos, Christopher B. Wilson

    Published 2009
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  6. 6
    Sequencing newly replicated DNA reveals widespread plasticity in human replication timing

    Sequencing newly replicated DNA reveals widespread plasticity in human replication timing by R. Scott Hansen, Sean Thomas, Richard Sandstrom, Theresa K. Canfield, Robert E. Thurman, Molly Weaver, Michael O. Dorschner, Stanley M. Gartler, J Stamatoyannopoulos

    Published 2009
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  7. 7
    <i><scp>CTC</scp>1</i> mutations in a Brazilian family with progeroid features and recurrent bone fractures

    <i><scp>CTC</scp>1</i> mutations in a Brazilian family with progeroid features and recurrent bone fractures by Forough Sargolzaeiaval, Jiaming Zhang, Jennifer Schleit, Davor Lessel, Christian Kubisch, Débora Rossi Precioso, David Sillence, Fuki M. Hisama, Michael O. Dorschner, George M. Martin, Junko Oshima

    Published 2018
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  8. 8
    Refining the structure and content of clinical genomic reports

    Refining the structure and content of clinical genomic reports by Michael O. Dorschner, Laura M. Amendola, Brian H. Shirts, Lesli A. Kiedrowski, Joseph S Salama, Allan Gordon, Stephanie M. Fullerton, Peter Tarczy‐Hornoch, Peter H. Byers, Gail P. Jarvik

    Published 2014
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  9. 9
    Discovery of functional noncoding elements by digital analysis of chromatin structure

    Discovery of functional noncoding elements by digital analysis of chromatin structure by Peter J. Sabo, Michael Hawrylycz, James C. Wallace, Richard Humbert, Man Yu, Anthony Shafer, Janelle Kawamoto, Robert D. Hall, Joshua Mack, Michael O. Dorschner, Michael McArthur, J Stamatoyannopoulos

    Published 2004
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  10. 10
    High-throughput localization of functional elements by quantitative chromatin profiling

    High-throughput localization of functional elements by quantitative chromatin profiling by Michael O. Dorschner, Michael Hawrylycz, Richard Humbert, James C. Wallace, Anthony Shafer, Janelle Kawamoto, Joshua Mack, Robert D. Hall, Jeff Goldy, Peter J. Sabo, Ajay Kohli, Qiliang Li, Michael McArthur, J Stamatoyannopoulos

    Published 2004
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  11. 11
    Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

    Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction by Miroslav P. Milev, Megan E. Grout, Djenann Saint‐Dic, Yong-Han Hank Cheng, Ian Glass, Christopher J. Hale, D. Hanna, Michael O. Dorschner, Keshika Prematilake, Avraham Shaag, Orly Elpeleg, Michael Sacher, Dan Doherty, Simon Edvardson

    Published 2017
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  12. 12
    High-recovery visual identification and single-cell retrieval of circulating tumor cells for genomic analysis using a dual-technology platform integrated with automated immunofluorescence staining

    High-recovery visual identification and single-cell retrieval of circulating tumor cells for genomic analysis using a dual-technology platform integrated with automated immunofluor... by Daniel Campton, Arturo B. Ramirez, Joshua J. Nordberg, Nick Drovetto, Alisa Clein, Paulina Varshavskaya, Barry H Friemel, Steve Quarre, Amy M. Breman, Michael O. Dorschner, Sibel Blau, C. Anthony Blau, Daniel E. Sabath, Jackie L. Stilwell, Eric Kaldjian

    Published 2015
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  13. 13
    R47H Variant of<i>TREM2</i>Associated With Alzheimer Disease in a Large Late-Onset Family

    R47H Variant of<i>TREM2</i>Associated With Alzheimer Disease in a Large Late-Onset Family by Olena Korvatska, James B. Leverenz, Suman Jayadev, Pamela J. McMillan, Irina Kurtz, Xindi Guo, Malia Rumbaugh, Mark Matsushita, Santhosh Girirajan, Michael O. Dorschner, Kostantin Kiianitsa, Chang-En Yu, Zoran Brkanac, Gwenn A. Garden, Wendy H. Raskind, Thomas D. Bird

    Published 2015
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  14. 14
    Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms

    Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms by Yigit Karasozen, Joshua W. Osbun, Carolina A. Parada, Tina Busald, Philip D. Tatman, Luis F. Gonzalez‐Cuyar, Christopher J. Hale, Diana Alcantara, Mark O’Driscoll, William B. Dobyns, Mitzi L. Murray, Louis J. Kim, Peter H. Byers, Michael O. Dorschner, Manuel Ferreira

    Published 2019
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  15. 15
    Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome

    Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome by Erez Lieberman-Aiden, Nynke L. van Berkum, Louise Williams, Maxim Imakaev, Tobias Ragoczy, Agnes Telling, Ido Amit, Bryan R. Lajoie, Peter J. Sabo, Michael O. Dorschner, Richard Sandstrom, B Bernstein, M. A. Bender, Mark Groudine, Andreas Gnirke, J Stamatoyannopoulos, Leonid A. Mirny, Eric S. Lander, Job Dekker

    Published 2009
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  16. 16
    Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

    Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) by D Doherty, Melissa A. Parisi, Laura S. Finn, Meral Gunay‐Aygun, Majeed Al-Mateen, Daniel Bates, Carol L. Clericuzio, Hülya Demır, Michael O. Dorschner, Anthonie J. van Essen, William A. Gahl, Mattia Gentile, Nicholas T. Gorden, Abigail Hikida, Dana Knutzen, Hamìt Özyürek, Ian G. Phelps, Phillip Rosenthal, Alain Verloès, Heike Weigand, P. F. Chance, William B. Dobyns, Ian Glass

    Published 2009
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  17. 17
    Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

    Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory by Sumit Punj, Yassmine Akkari, Jennifer H. Huang, Fei Yang, Allison Creason, Christine M. Pak, Amiee Potter, Michael O. Dorschner, Deborah A. Nickerson, Peggy D. Robertson, Gail P. Jarvik, Laura M. Amendola, Jennifer Schleit, Dana Kostiner Simpson, Alan F. Rope, Jacob A. Reiss, Tia L. Kauffman, Marian J. Gilmore, Patricia Himes, Benjamin S. Wilfond, Katrina A.B. Goddard, C. Sue Richards

    Published 2018
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  18. 18
    The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease

    The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease by Ignácio F. Mata, Yongwoo Jang, Chun-Hyung Kim, D. Hanna, Michael O. Dorschner, Ali Samii, Pinky Agarwal, John W. Roberts, Olga Klepitskaya, David Shprecher, Kathryn A. Chung, Stewart A. Factor, Alberto J. Espay, Fredy J. Revilla, Donald S. Higgins, Irene Litvan, James B. Leverenz, Dora Yearout, Miguel Inca‐Martinez, Erica Martinez, Tiffany R. Thompson, Brenna Cholerton, Shu-Ching Hu, Karen L. Edwards, Kwangsoo Kim, Cyrus P. Zabetian

    Published 2015
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  19. 19
    Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

    Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes by Michael O. Dorschner, Laura M. Amendola, Emily H. Turner, Peggy D. Robertson, Brian H. Shirts, Carlos J. Gallego, Robin L. Bennett, Kelly L. Jones, Mari Tokita, James T. Bennett, Jerry H. Kim, Elisabeth A. Rosenthal, Daniel S. Kim, Holly K. Tabor, Michael J. Bamshad, Arno G. Motulsky, C. Ronald Scott, Colin C. Pritchard, Tom Walsh, Wylie Burke, Wendy H. Raskind, Peter H. Byers, Fuki M. Hisama, Deborah A. Nickerson, Gail P. Jarvik

    Published 2013
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  20. 20
    <i>ADCY5</i> -related dyskinesia

    <i>ADCY5</i> -related dyskinesia by Donghui Chen, Aurélie Méneret, Jennifer Friedman, Olena Korvatska, Alona Gad, Emily Bonkowski, Holly A.F. Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim, Saunder Bernes, Marie Y. Davis, Nathalie Damon‐Perrière, Bertrand Degos, David Grabli, Domitille Gras, Fuki M. Hisama, Katherine M. Mackenzie, Phillip D. Swanson, Christine Tranchant, Marie Vidailhet, Steven P. Winesett, Oriane Trouillard, Laura M. Amendola, Michael O. Dorschner, Michael D. Weiss, Evan E. Eichler, Ali Torkamani, Emmanuel Roze, Thomas D. Bird, Wendy H. Raskind

    Published 2015
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