檢索結果 - Matthew R. Stone
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Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation 由 Harrison Brand, Ryan L. Collins, Carrie Hanscom, Jill A. Rosenfeld, Vamsee Pillalamarri, Matthew R. Stone, Fontina Kelley, Tamara Mason, Lauren Margolin, Stacey Eggert, Elyse Mitchell, Jennelle C. Hodge, James F. Gusella, Stephan Sanders, Michael E. Talkowski
出版 2015Artigo -
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Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders 由 Harrison Brand, Vamsee Pillalamarri, Ryan L. Collins, Stacey Eggert, Colm Ó'Dúshláine, Ellen B. Braaten, Matthew R. Stone, Kimberly Chambert, Nathan D. Doty, Carrie Hanscom, Jill A. Rosenfeld, Hillary L. Ditmars, Jessica E. Blais, Ryan E. Mills, Charles Lee, James F. Gusella, Steven A. McCarroll, Jordan W. Smoller, Michael E. Talkowski, Alysa E. Doyle
出版 2014Artigo -
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Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome 由 Ryan L. Collins, Harrison Brand, Claire Redin, Carrie Hanscom, Caroline Antolik, Matthew R. Stone, Joseph Glessner, Tamara Mason, Giulia Pregno, Naghmeh Dorrani, Giorgia Mandrile, Daniela Giachino, Danielle Perrin, Cole Walsh, Michelle Cipicchio, Maura Costello, Alexei Stortchevoi, Joon‐Yong An, Benjamin Currall, Catarina M. Seabra, Ashok Ragavendran, Lauren Margolin, Julián A. Martínez-Agosto, Diane Lucente, Brynn Levy, Stephan Sanders, Ronald J. Wapner, Fabiola Quintero‐Rivera, Wigard P. Kloosterman, Michael E. Talkowski
出版 2017Artigo -
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An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder 由 Donna M. Werling, Harrison Brand, Joon‐Yong An, Matthew R. Stone, Lingxue Zhu, Joseph Glessner, Ryan L. Collins, Shan Dong, Ryan M. Layer, Eirene Markenscoff-Papadimitriou, Andrew Farrell, Grace Schwartz, Harold Z. Wang, Benjamin Currall, Xuefang Zhao, Jeanselle Dea, Clif Duhn, Carolyn A. Erdman, Michael C. Gilson, Rachita Yadav, Robert E. Handsaker, Seva Kashin, Lambertus Klei, Jeffrey D. Mandell, Tomasz J. Nowakowski, Yuwen Liu, Sirisha Pochareddy, Louw Smith, Michael F. Walker, Matthew J. Waterman, Xin He, Arnold R. Kriegstein, John L.R. Rubenstein, Nenad Šestan, Steven A. McCarroll, Benjamin M. Neale, Hilary Coon, A. Jeremy Willsey, Joseph D. Buxbaum, Mark J. Daly, Matthew W. State, Aaron R. Quinlan, Gábor Marth, Kathryn Roeder, Bernie Devlin, Michael E. Talkowski, Stephan Sanders
出版 2018Artigo -
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An open resource of structural variation for medical and population genetics 由 Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli, Amit V. Khera, Chelsea Lowther, Laura D. Gauthier, Harold Wang, Nicholas A. Watts, Matthew Solomonson, Anne O’Donnell‐Luria, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, Matthew R. Stone, Elise Valkanas, Jack Fu, Grace Tiao, Kristen M. Laricchia, Valentín Ruano-Rubio, Christine Stevens, Namrata Gupta, Lauren Margolin, Kent D. Taylor, Henry J. Lin, Stephen S. Rich, Wendy S. Post, Yii‐Der Ida Chen, Jerome I. Rotter, Chad Nusbaum, Anthony Philippakis, Eric S. Lander, Stacey Gabriel, Benjamin M. Neale, Sekar Kathiresan, Mark J. Daly, Eric Banks, Daniel G. MacArthur, Michael E. Talkowski
出版 2019Pré-impressão -
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Mutations in DCHS1 cause mitral valve prolapse 由 Ronen Durst, Kimberly Sauls, David S. Peal, Annemarieke deVlaming, Katelynn Toomer, Maire Leyne, Monica Salani, Michael E. Talkowski, Harrison Brand, M. Perrocheau, Charles E. Simpson, Christopher C. Jett, Matthew R. Stone, Florie A. Charles, Colby Chiang, Stacey N. Lynch, Nabila Bouatia‐Naji, Francesca N. Delling, Lisa A. Freed, Christophe Tribouilloy, Thierry Le Tourneau, Hervé LeMarec, Leticia Fernández‐Friera, Jorge Solı́s, Daniel Trujillano, Stephan Ossowski, Xavier Estivill, Christian Dina, Patrick Bruneval, Adrian H. Chester, Jean‐Jacques Schott, Kenneth D. Irvine, Yaopan Mao, Andy Wessels, Tahirali Motiwala, Michel Pucéat, Yoshikazu Tsukasaki, Donald R. Menick, Harinath Kasiganesan, Xingju Nie, Ann‐Marie Broome, Katherine Williams, Amanda Johnson, Roger R. Markwald, Xavier Jeunemaı̂tre, Albert Hagège, Robert A. Levine, David J. Milan, Russell A. Norris, Susan A. Slaugenhaupt
出版 2015Artigo -
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Functional annotation of rare structural variation in the human brain 由 Lide Han, Xuefang Zhao, Mary Lauren Benton, Thanneer M. Perumal, Ryan L. Collins, Gabriel E. Hoffman, Jessica Johnson, Laura Sloofman, Harold Z. Wang, Matthew R. Stone, Schahram Akbarian, Jaroslav Bendl, Michael S. Breen, Kristen Brennand, Leanne Brown, Andrew Browne, Joseph D. Buxbaum, Alexander W. Charney, Andrew Chess, Lizette Couto, Greg Crawford, Olivia Devillers, Bernie Devlin, Amanda Dobbyn, Enrico Domenici, Michele Filosi, Elie Flatow, Nancy Francoeur, John F. Fullard, Sergio Espeso‐Gil, Kiran Girdhar, Attila Gulyás-Kovács, Raquel E. Gur, Chang-Gyu Hahn, Vahram Haroutunian, Mads E. Hauberg, Laura M. Huckins, Rivky Jacobov, Yan Jiang, Jessica Johnson, Bibi Kassim, Yungil Kim, Lambertus Klei, Robin S. S. Kramer, Mario Lauria, Thomas Lehner, David A. Lewis, Barbara K. Lipska, Kelsey S. Montgomery, Royce Park, Chaggai Rosenbluh, Panos Roussos, Douglas M. Ruderfer, Geetha Senthil, Hardik Shah, Laura Sloofman, Lingyun Song, Eli Stahl, Patrick Sullivan, Roberto Visintainer, Jiebiao Wang, Ying‐Chih Wang, Jennifer Wiseman, Eva Xia, Wen Zhang, Elizabeth Zharovsky, Kristen Brennand, Harrison Brand, Solveig K. Sieberts, Stefano Marenco, Mette A. Peters, Barbara K. Lipska, Panos Roussos, John A. Capra, Michael E. Talkowski, Douglas M. Ruderfer
出版 2020Artigo -
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A structural variation reference for medical and population genetics 由 Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli, Amit V. Khera, Chelsea Lowther, Laura D. Gauthier, Harold Wang, Nicholas A. Watts, Matthew Solomonson, Anne O’Donnell‐Luria, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, Matthew R. Stone, Elise Valkanas, Jack Fu, Grace Tiao, Kristen M. Laricchia, Valentín Ruano-Rubio, Christine Stevens, Namrata Gupta, Caroline Cusick, Lauren Margolin, Jessica Alföldi, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, Ryan L. Collins, Kristen M. Connolly, Miguel Covarrubias, Beryl B. Cummings, Mark J. Daly, Stacey Donnelly, Yossi Farjoun, Steven Ferriera, Laurent C. Francioli, Stacey Gabriel, Laura D. Gauthier, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Konrad J. Karczewski, Kristen M. Laricchia, Christopher Llanwarne, Eric Vallabh Minikel, Ruchi Munshi, Benjamin M. Neale, Sam Novod, Anne O’Donnell‐Luria, Nikelle Petrillo, Timothy Poterba, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Kaitlin E. Samocha, Molly Schleicher, Cotton Seed, Matthew Solomonson, José Soto, Grace Tiao, Kathleen Tibbetts, Charlotte Tolonen, Christopher Vittal, Gordon Wade, Arcturus Wang, Qingbo Wang, James S. Ware, Nicholas A. Watts, Ben Weisburd, Nicola Whiffin, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, J. A. Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C.N. Chan, Daniel I. Chasman, Judy H. Cho, Mina K. Chung, Bruce M. Cohen, Adolfo Correa, Dana Dabelea
出版 2020Artigo
相關主題
Biology
Gene
Genetics
Computational biology
Genome
Structural variation
Copy-number variation
Artificial intelligence
Computer science
Evolutionary biology
Medical genetics
Medicine
Physics
Variation (astronomy)
Whole genome sequencing
Astrophysics
Breakpoint
Chromosome
Data mining
Gene duplication
Gene expression
Karyotype
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Autism
Autism spectrum disorder
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Benchmarking