检索结果 - Michael O. Dorschner
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Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-γ 由 Jamie Schoenborn, Michael O. Dorschner, Masayuki Sekimata, Deanna M. Santer, Maria Shnyreva, David Fitzpatrick, J Stamatoyannopoulos, Christopher Wilson
出版 2007Artigo -
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CCCTC-Binding Factor and the Transcription Factor T-bet Orchestrate T Helper 1 Cell-Specific Structure and Function at the Interferon-γ Locus 由 Masayuki Sekimata, Mercedes Pérez‐Melgosa, Sara A. Miller, Amy S. Weinmann, Peter J. Sabo, Richard Sandstrom, Michael O. Dorschner, J Stamatoyannopoulos, Christopher B. Wilson
出版 2009Artigo -
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<i><scp>CTC</scp>1</i> mutations in a Brazilian family with progeroid features and recurrent bone fractures 由 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
出版 2018Artigo -
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Discovery of functional noncoding elements by digital analysis of chromatin structure 由 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
出版 2004Artigo -
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High-throughput localization of functional elements by quantitative chromatin profiling 由 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
出版 2004Artigo -
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Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction 由 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
出版 2017Artigo -
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High-recovery visual identification and single-cell retrieval of circulating tumor cells for genomic analysis using a dual-technology platform integrated with automated immunofluor... 由 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
出版 2015Artigo -
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R47H Variant of<i>TREM2</i>Associated With Alzheimer Disease in a Large Late-Onset Family 由 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
出版 2015Artigo -
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Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms 由 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
出版 2019Artigo -
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Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome 由 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
出版 2009Artigo -
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) 由 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
出版 2009Artigo -
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Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory 由 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
出版 2018Artigo -
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The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease 由 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
出版 2015Artigo -
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Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes 由 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
出版 2013Artigo -
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<i>ADCY5</i> -related dyskinesia 由 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
出版 2015Artigo
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