نتائج البحث - Colby Chiang

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  1. 1
    Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes

    Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes حسب Alexandra J. Scott, Colby Chiang, Ira M. Hall

    منشور في 2021
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  2. 2
    LUMPY: a probabilistic framework for structural variant discovery

    LUMPY: a probabilistic framework for structural variant discovery حسب Ryan M. Layer, Colby Chiang, Aaron R. Quinlan, Ira M. Hall

    منشور في 2014
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  3. 3
    svtools: population-scale analysis of structural variation

    svtools: population-scale analysis of structural variation حسب David E. Larson, Haley Abel, Colby Chiang, Abhijit Badve, Indraniel Das, James M. Eldred, Ryan M. Layer, Ira M. Hall

    منشور في 2019
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  4. 4
    SpeedSeq: ultra-fast personal genome analysis and interpretation

    SpeedSeq: ultra-fast personal genome analysis and interpretation حسب Colby Chiang, Ryan M. Layer, Gregory G. Faust, Michael Lindberg, David B Rose, Erik Garrison, Gábor Marth, Aaron R. Quinlan, Ira M. Hall

    منشور في 2015
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  5. 5
    Identification of Drivers of Aneuploidy in Breast Tumors

    Identification of Drivers of Aneuploidy in Breast Tumors حسب Katherine Pfister, Justyna L. Pipka, Colby Chiang, Yunxian Liu, Royden A. Clark, Ray Keller, Paul Skoglund, Michael J. Guertin, Ira M. Hall, P. Todd Stukenberg

    منشور في 2018
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  6. 6
    The impact of structural variation on human gene expression

    The impact of structural variation on human gene expression حسب Colby Chiang, Alexandra J. Scott, Joe R. Davis, Emily K. Tsang, Xin Li, Yungil Kim, Tarik Hadžić, Farhan N. Damani, Liron Ganel, Stephen B. Montgomery, Alexis Battle, Donald F. Conrad, Ira M. Hall

    منشور في 2017
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  7. 7
    Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

    Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research حسب Michael E. Talkowski, Carl Ernst, Adrian Heilbut, Colby Chiang, Carrie Hanscom, Amelia M. Lindgren, Andrew Kirby, Shangtao Liu, Bhavana Muddukrishna, Toshiro K. Ohsumi, Yiping Shen, Mark L. Borowsky, Mark J. Daly, Cynthia C. Morton, James F. Gusella

    منشور في 2011
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  8. 8
    The impact of rare variation on gene expression across tissues

    The impact of rare variation on gene expression across tissues حسب Xin Li, Yungil Kim, Emily K. Tsang, Joe R. Davis, Farhan N. Damani, Colby Chiang, Gaelen T. Hess, Zachary Zappala, Benjamin J. Strober, Alexandra J. Scott, Amy Li, Andrea Ganna, Michael C. Bassik, Jason D. Merker, Ira M. Hall, Alexis Battle, Stephen B. Montgomery

    منشور في 2017
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  9. 9
    Mapping and characterization of structural variation in 17,795 human genomes

    Mapping and characterization of structural variation in 17,795 human genomes حسب Haley Abel, David E. Larson, Allison Regier, Colby Chiang, Indraniel Das, Krishna Kanchi, Ryan M. Layer, Benjamin M. Neale, William Salerno, Catherine Reeves, Steven Buyske, Tara C. Matise, Donna M. Muzny, Michael C. Zody, Eric S. Lander, Susan K. Dutcher, Nathan O. Stitziel, Ira M. Hall

    منشور في 2020
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  10. 10
    Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

    Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate حسب Amelia M. Lindgren, Tatiana Hoyos, Michael E. Talkowski, Carrie Hanscom, Ian Blumenthal, Colby Chiang, Carl Ernst, Shahrin Pereira, Zehra Ordulu, Carol L. Clericuzio, Joanne M. Drautz, Jill A. Rosenfeld, Lisa G. Shaffer, Lea Velsher, Tania Pynn, Joris Vermeesch, David J. Harris, James F. Gusella, Eric C. Liao, Cynthia C. Morton

    منشور في 2013
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  11. 11
    Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

    Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration حسب Colby Chiang, Jessie C. Jacobsen, Carl Ernst, Carrie Hanscom, Adrian Heilbut, Ian Blumenthal, Ryan E. Mills, Andrew Kirby, Amelia M. Lindgren, Skye R. Rudiger, Clive J. McLaughlan, C. Simon Bawden, Suzanne J. Reid, Richard L. M. Faull, Russell G. Snell, Ira M. Hall, Yiping Shen, Toshiro K. Ohsumi, Mark L. Borowsky, Mark J. Daly, Charles Lee, Cynthia C. Morton, Marcy E. MacDonald, James F. Gusella, Michael E. Talkowski

    منشور في 2012
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  12. 12
    Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities

    Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities حسب Michael E. Talkowski, Gilles Maussion, Liam Crapper, Jill A. Rosenfeld, Ian Blumenthal, Carrie Hanscom, Colby Chiang, Amelia M. Lindgren, Shahrin Pereira, Douglas M. Ruderfer, Alpha Diallo, Juan Pablo López, Gustavo Turecki, Elizabeth Chen, Carolina Oliveira Gigek, David J. Harris, Va Lip, Yu An, Marta Biagioli, Marcy E. MacDonald, Michael F. Lin, Stephen J. Haggarty, Pamela Sklar, Shaun Purcell, Manolis Kellis, Stuart Schwartz, Lisa G. Shaffer, Marvin R. Natowicz, Yiping Shen, Cynthia C. Morton, James F. Gusella, Carl Ernst

    منشور في 2012
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  13. 13
    Implication of <i>LRRC4C</i> and <i>DPP6</i> in neurodevelopmental disorders

    Implication of <i>LRRC4C</i> and <i>DPP6</i> in neurodevelopmental disorders حسب Gilles Maussion, Cristiana Cruceanu, Jill A. Rosenfeld, Scott C. Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L. Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Kiyomi Ota, Christina M. Hultman, Colm O’Dushlaine, Steve McCarroll, Martin Alda, Sébastien Jacquemont, Zehra Ordulu, Christian R. Marshall, Melissa T. Carter, Lisa G. Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C. Morton, James F. Gusella, Gustavo Turecki, Dimitri J. Stavropoulos, Patrick F. Sullivan, Stephen W. Scherer, Michael E. Talkowski, Carl Ernst

    منشور في 2016
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  14. 14
    Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

    Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries حسب Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal, Vamsee Pillalamarri, Colby Chiang, Adrian Heilbut, Carl Ernst, Carrie Hanscom, Elizabeth J. Rossin, Amelia M. Lindgren, Shahrin Pereira, Douglas M. Ruderfer, Andrew Kirby, Stephan Ripke, David J. Harris, Ji‐Hyun Lee, Kyungsoo Ha, Hyung‐Goo Kim, Benjamin D. Solomon, Andrea Gropman, Diane Lucente, Katherine B. Sims, Toshiro K. Ohsumi, Mark L. Borowsky, Stephanie Loranger, Bradley J. Quade, Kasper Lage, Judith H. Miles, Bai-Lin Wu, Yiping Shen, Benjamin M. Neale, Lisa G. Shaffer, Mark J. Daly, Cynthia C. Morton, James F. Gusella

    منشور في 2012
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  15. 15
    Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

    Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder حسب Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, Bregje W.M. van Bon, Yiping Shen, Elena Repnikova, Julie M. Gastier‐Foster, Devon Lamb Thrush, Sekar Kathiresan, Douglas M. Ruderfer, Colby Chiang, Carrie Hanscom, Carl Ernst, Amelia M. Lindgren, Cynthia C. Morton, Yu An, Caroline Astbury, Louise Brueton, Klaske D. Lichtenbelt, Lesley C. Adès, Marco Fichera, Corrado Romano, Jeffrey W. Innis, Charles A. Williams, Dennis Bartholomew, Margot I. Van Allen, Aditi Shah Parikh, Lilei Zhang, Bai-Lin Wu, Robert E. Pyatt, Stuart Schwartz, Lisa G. Shaffer, Bert B.A. de Vries, James F. Gusella, Sarah H. Elsea

    منشور في 2011
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  16. 16
    Exome sequencing of Finnish isolates enhances rare-variant association power

    Exome sequencing of Finnish isolates enhances rare-variant association power حسب Adam E. Locke, Karyn Meltz Steinberg, Charleston W. K. Chiang, Susan K. Service, Aki S. Havulinna, Laurel Stell, Matti Pirinen, Haley Abel, Colby Chiang, Robert S. Fulton, Anne Jackson, Chul Joo Kang, Krishna Kanchi, Daniel C. Koboldt, David E. Larson, Joanne O. Nelson, Thomas J. Nicholas, Arto Pietilä, Vasily Ramensky, Debashree Ray, Laura J. Scott, Heather M. Stringham, Jagadish Vangipurapu, Ryan Welch, Pranav Yajnik, Xianyong Yin, Johan G. Eriksson, Mika Ala‐Korpela, Marjo‐Riitta Järvelin, Minna Männikkö, Hannele Laivuori, Susan K. Dutcher, Nathan O. Stitziel, Richard K. Wilson, Ira M. Hall, Chiara Sabatti, Aarno Palotie, Veikko Salomaa, Markku Laakso, Samuli Ripatti, Michael Boehnke, Nelson B. Freimer

    منشور في 2019
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  17. 17
    Mutations in DCHS1 cause mitral valve prolapse

    Mutations in DCHS1 cause mitral valve prolapse حسب 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

    منشور في 2015
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  18. 18
    Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

    Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus حسب Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld, Michael E. Talkowski, Ingrid Simonic, Anath C. Lionel, Sarah Vergult, Robert E. Pyatt, Jiddeke van de Kamp, Aggie Nieuwint, Marjan M. Weiss, Patrizia Rizzu, Lucilla E.N.I. Verwer, Rosalina M.L. van Spaendonk, Yiping Shen, Bai-Lin Wu, Tingting Yu, Yongguo Yu, Colby Chiang, James F. Gusella, Amelia M. Lindgren, Cynthia C. Morton, Ellen van Binsbergen, Saskia Bulk, Els van Rossem, Olivier Vanakker, Ruth Armstrong, Soo-Mi Park, Lynn Greenhalgh, Una Maye, Nicholas J. Neill, Kristin M. Abbott, Susan L. Sell, Roger L. Ladda, Darren Farber, Patricia I. Bader, Tom Cushing, Joanne M. Drautz, Laura Konczal, Patricia Nash, Emily de los Reyes, Melissa T. Carter, Elizabeth Hopkins, Christian R. Marshall, Lucy R. Osborne, Karen W. Gripp, Devon Lamb Thrush, Sayaka Hashimoto, Julie M. Gastier‐Foster, Caroline Astbury, Bauke Ylstra, Hanne Meijers‐Heijboer, Daniëlle Posthuma, Björn Menten, Geert Mortier, Stephen W. Scherer, Evan E. Eichler, Santhosh Girirajan, Nicholas Katsanis, Alexander J. Groffen, Erik A. Sistermans

    منشور في 2013
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  19. 19
    SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

    SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome حسب Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I. Jones, Serkan Erdin, Kathleen A. Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin E. Samocha, Benjamin Currall, Donncha S. Dunican, Ryan L. Collins, Jason R. Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M. Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K. Rainger, Shelagh Joss, Jill Smith, Margaret Lippincott, Sylvia Singh, Nirav Patel, Jenny W Jing, Jennifer Law, Nalton Ferraro, Alain Verloès, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina M. Jacobsen, Jeanie B. Tryggestad, Steven D. Chernausek, Lisa A. Schimmenti, Benjamin Brasseur, Claudia Cesaretti, José Elías García‐Ortíz, Tatiana Pineda Buitrago, Orlando Pérez Silva, Jodi D. Hoffman, W. Mühlbauer, Klaus W. Ruprecht, Bart Loeys, Masato Shino, Angela M. Kaindl, Chie Hee Cho, Cynthia C. Morton, Richard R. Meehan, Veronica van Heyningen, Eric C. Liao, Ravikumar Balasubramanian, Janet E. Hall, Stephanie B. Seminara, Daniel G. MacArthur, Steven A. Moore, Koh-ichiro Yoshiura, James F. Gusella, Joseph A. Marsh, John M. Graham, Angela E. Lin, Nicholas Katsanis, Peter L. Jones, William F. Crowley, Erica E. Davis, David Fitzpatrick, Michael E. Talkowski

    منشور في 2017
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  20. 20
    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies حسب Claire Redin, Harrison Brand, Ryan L. Collins, Tammy Kammin, Elyse Mitchell, Jennelle C. Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M. Seabra, Mary‐Alice Abbott, Omar Abdul‐Rahman, Erika Aberg, Rhett Adley, Sofía Lizeth Alcaráz‐Estrada, Fowzan S. Alkuraya, Yu An, MaryAnne Anderson, Caroline Antolik, Kwame Anyane‐Yeboa, Joan Atkin, Tina M. Bartell, Jonathan A. Bernstein, Elizabeth Beyer, Ian Blumenthal, Ernie M.H.F. Bongers, Eva H. Brilstra, Chester Brown, Hennie T. Brüggenwirth, Bert Callewaert, Colby Chiang, Ken Corning, Helen Cox, Edwin Cuppen, Benjamin Currall, Tom Cushing, D. David, Matthew A. Deardorff, Annelies Dheedene, Marc D’Hooghe, Bert B.A. de Vries, Dawn Earl, Heather Ferguson, Heather Fisher, David Fitzpatrick, Pamela Gerrol, Daniela Giachino, Joseph Glessner, Troy J. Gliem, Margo Grady, Brett H. Graham, Cristin Griffis, Karen W. Gripp, Andrea Gropman, Andrea Hanson‐Kahn, David J. Harris, Mark A. Hayden, R. Sean Hill, Ron Hochstenbach, Jodi D. Hoffman, Robert J. Hopkin, Monika Weisz Hubshman, A. Micheil Innes, Mira Irons, Melita Irving, Jessie C. Jacobsen, Sandra Janssens, Tamison Jewett, John P. Johnson, Marjolijn C.J. Jongmans, Stephen G. Kahler, David A. Koolen, Jerome Korzelius, Peter M. Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen A. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, Edward J. Lose, Diane Lucente, Michael J. Macera, Poornima Manavalan, Giorgia Mandrile, Carlo Marcelis, Lauren Margolin, Tamara Mason, Diane Masser‐Frye, Michael McClellan, Cinthya J. Zepeda Mendoza, Björn Menten, Sjors Middelkamp, Liya Regina Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan Mortenson

    منشور في 2016
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