نتائج البحث - Jeffrey R. MacDonald

تنقيح النتائج
  1. 1
    The Database of Genomic Variants: a curated collection of structural variation in the human genome

    The Database of Genomic Variants: a curated collection of structural variation in the human genome حسب Jeffrey R. MacDonald, Robert Ziman, Ryan K. C. Yuen, Lars Feuk, Stephen W. Scherer

    منشور في 2013
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  2. 2
    Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

    Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence حسب Joseph Cheung, Xavier Estivill, Razi Khaja, Jeffrey R. MacDonald, Ken S. Lau, Lap‐Chee Tsui, Stephen W. Scherer

    منشور في 2003
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  3. 3
    Discovery of Human Inversion Polymorphisms by Comparative Analysis of Human and Chimpanzee DNA Sequence Assemblies

    Discovery of Human Inversion Polymorphisms by Comparative Analysis of Human and Chimpanzee DNA Sequence Assemblies حسب Lars Feuk, Jeffrey R. MacDonald, Terence Tang, Andrew R. Carson, Martin Li, G. P. Rao, Razi Khaja, Stephen W. Scherer

    منشور في 2005
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  4. 4
    Recent segmental and gene duplications in the mouse genome

    Recent segmental and gene duplications in the mouse genome حسب Joseph Cheung, Michael D. Wilson, Junjun Zhang, Razi Khaja, Jeffrey R. MacDonald, Henry H.Q. Heng, Ben F. Koop, Stephen W. Scherer

    منشور في 2003
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  5. 5
    Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse

    Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse حسب Catherine F. Li, Jeffrey R. MacDonald, Robert Y. Wei, Jocelyn Ray, Kimberly Lau, Christopher Kandel, Rachel Koffman, Sherilyn L. Bell, Stephen W. Scherer, Benjamin A. Alman

    منشور في 2007
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  6. 6
    Towards a comprehensive structural variation map of an individual human genome

    Towards a comprehensive structural variation map of an individual human genome حسب Andy Wing Chun Pang, Jeffrey R. MacDonald, Dalila Pinto, John Wei, Muhammad Rafiq, Donald F. Conrad, Hansoo Park, Matthew E. Hurles, Charles Lee, J. Craig Venter, Ewen F. Kirkness, Samuel Lévy, Lars Feuk, Stephen W. Scherer

    منشور في 2010
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  7. 7
    Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

    Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping حسب Heather M. Harville, Swantje Held, Anna Dı́az-Font, Erica E. Davis, Bill H. Diplas, Richard A. Lewis, Zvi Borochowitz, Weibin Zhou, Moumita Chaki, Jeffrey R. MacDonald, Hülya Kayserili, Phil Beales, Nicholas Katsanis, Edgar A. Otto, Friedhelm Hildebrandt

    منشور في 2009
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  8. 8
    A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

    A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data حسب Brett Trost, Susan Walker, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Jeffrey R. MacDonald, Wilson W. L. Sung, Sérgio L. Pereira, J. Andrew Whitney, Ada J. S. Chan, Giovanna Pellecchia, Miriam S. Reuter, Si Lok, Ryan K. C. Yuen, Christian R. Marshall, Daniele Merico, Stephen W. Scherer

    منشور في 2018
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  9. 9
    Genome assembly comparison identifies structural variants in the human genome

    Genome assembly comparison identifies structural variants in the human genome حسب Razi Khaja, Junjun Zhang, Jeffrey R. MacDonald, Yongshu He, Ann M. Joseph‐George, John Wei, Muhammad Rafiq, Qian Cheng, Mary Shago, Lorena Pantano, Hiroyuki Aburatani, Keith Jones, Richard Redon, Matthew E. Hurles, Lluı́s Armengol, Xavier Estivill, Richard Mural, Charles Lee, Stephen W. Scherer, Lars Feuk

    منشور في 2006
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  10. 10
    Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy

    Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy حسب Kazuhiko Nakabayashi, Daniela Amann, Yan Ren, Ulpu Saarialho‐Kere, Nili Avidan, S. Gentles, Jeffrey R. MacDonald, Erik G. Puffenberger, Angela M. Christiano, Amalia Martı́nez-Mir, Julio C. Salas‐Alanís, Renata Rizzo, Esther Vamos, Anja Raams, Clifford Les, Eric Seboun, Nicolaas G.J. Jaspers, J. Beckmann, Charles E. Jackson, Stephen W. Scherer

    منشور في 2005
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  11. 11
    Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

    Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants حسب Dalila Pinto, Katayoon Darvishi, Xinghua Shi, Diana Rajan, Diane Rigler, Tomas Fitzgerald, Anath C. Lionel, Bhooma Thiruvahindrapuram, Jeffrey R. MacDonald, Ryan E. Mills, Aparna Prasad, Kristin Noonan, Susan Gribble, Elena Prigmore, Patricia K. Donahoe, Richard S. Smith, Ji Hyeon Park, Matthew E. Hurles, Nigel P. Carter, Charles Lee, Stephen W. Scherer, Lars Feuk

    منشور في 2011
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  12. 12
    A high-resolution copy-number variation resource for clinical and population genetics

    A high-resolution copy-number variation resource for clinical and population genetics حسب Mohammed Uddin, Bhooma Thiruvahindrapuram, Susan Walker, Zhuozhi Wang, Pingzhao Hu, Sylvia Lamoureux, John Wei, Jeffrey R. MacDonald, Giovanna Pellecchia, Chao Lu, Anath C. Lionel, Matthew J. Gazzellone, John McLaughlin, Catherine Brown, Irene L. Andrulis, Julia A. Knight, Jo-Anne Herbrick, Richard F. Wintle, Peter N. Ray, Dimitri J. Stavropoulos, Christian R. Marshall, Stephen W. Scherer

    منشور في 2014
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  13. 13
    De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

    De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy حسب Mehdi Zarrei, Darcy Fehlings, Karizma Mawjee, Lauren Switzer, Bhooma Thiruvahindrapuram, Susan Walker, Daniele Merico, Guillermo Casallo, Mohammed Uddin, Jeffrey R. MacDonald, Matthew J. Gazzellone, Edward J. Higginbotham, Craig Campbell, Gabrielle deVeber, Pam Frid, Jan Willem Gorter, Carolyn Hunt, Anne Kawamura, Marie Kim, Anna McCormick, Ronit Mesterman, Dawa Samdup, Christian R. Marshall, Dimitri J. Stavropoulos, Richard F. Wintle, Stephen W. Scherer

    منشور في 2017
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  14. 14
    Gene copy number variation and pediatric mental health/neurodevelopment in a general population

    Gene copy number variation and pediatric mental health/neurodevelopment in a general population حسب Mehdi Zarrei, Christie L. Burton, Worrawat Engchuan, Edward J. Higginbotham, John Wei, Sabah Shaikh, Nicole M. Roslin, Jeffrey R. MacDonald, Giovanna Pellecchia, Thomas Nalpathamkalam, Sylvia Lamoureux, Roozbeh Manshaei, Jennifer Howe, Brett Trost, Bhooma Thiruvahindrapuram, Christian R. Marshall, Ryan K. C. Yuen, Richard F. Wintle, Lisa J. Strug, Dimitri J. Stavropoulos, Jacob Vorstman, Paul Arnold, Daniele Merico, Marc Woodbury‐Smith, Jennifer Crosbie, Russell Schachar, Stephen W. Scherer

    منشور في 2023
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  15. 15
    Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex

    Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex حسب Kuldeep Kumar, Sayeh Kazem, Guillaume Huguet, Thomas Renne, Worrawat Engchuan, Martineau Jean‐Louis, Jakub Kopál, Zohra Saci, Bhooma Thiruvahindrapuram, Jeffrey R. MacDonald, Josephine Mollon, Laura M. Schultz, Emma Knowles, David J. Porteous, Gail Davies, Paul Redmond, Sarah E. Harris, Simon R. Cox, Günter Schumann, Zdenka Pausová, Celia M. T. Greenwood, Tomáš Paus, Stephen W. Scherer, Laura Almasy, Jonathan Sebat, David C. Glahn, Guillaume Dumas, Sébastien Jacquemont

    منشور في 2025
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  16. 16
    Origins and functional impact of copy number variation in the human genome

    Origins and functional impact of copy number variation in the human genome حسب Donald F. Conrad, Dalila Pinto, Richard Redon, Lars Feuk, Ömer Gökçümen, Goo Jun, Jan Aerts, T. Daniel Andrews, C. Barnes, Peter J. Campbell, Tomas Fitzgerald, Min Hu, Chun Hwa Ihm, Kati Kristiansson, Daniel G. MacArthur, Jeffrey R. MacDonald, Ifejinelo Onyiah, Andy Wing Chun Pang, Samuel C. Robson, Kathy Stirrups, Armand Valsesia, Klaudia Walter, John Wei, Chris Tyler‐Smith, Nigel P. Carter, Charles Lee, Stephen W. Scherer, Matthew E. Hurles

    منشور في 2009
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  17. 17
    The Diploid Genome Sequence of an Individual Human

    The Diploid Genome Sequence of an Individual Human حسب Samuel Lévy, Granger Sutton, Pauline C. Ng, Lars Feuk, Aaron L. Halpern, Brian P. Walenz, Nelson Axelrod, Jiaqi Huang, Ewen F. Kirkness, Gennady Denisov, Lin Yuan, Jeffrey R. MacDonald, Andy Wing Chun Pang, Mary Shago, Timothy B. Stockwell, Alexia Tsiamouri, Vineet Bafna, Vikas Bansal, Saul Kravitz, Dana Busam, Karen Beeson, Tina C. McIntosh, Karin Remington, Josep F. Abril, John Gill, Jon Borman, Yu-Hui Rogers, M.E. Frazier, Stephen W. Scherer, Robert L. Strausberg, J. Craig Venter

    منشور في 2007
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  18. 18
    Global variation in copy number in the human genome

    Global variation in copy number in the human genome حسب Richard Redon, Shumpei Ishikawa, Karen Fitch, Lars Feuk, George H. Perry, T. Daniel Andrews, Heike Fiegler, Michael H. Shapero, Andrew R. Carson, Wei‐Wen Chen, Eun Kyung Cho, Stephanie Dallaire, Jennifer L. Freeman, Juan R. González, Mónica Gratacòs, Jing Huang, Dimitrios Rafail Kalaitzopoulos, Daisuke Komura, Jeffrey R. MacDonald, Christian R. Marshall, Rui Mei, Lyndal Montgomery, Kunihiro Nishimura, K. Okamura, Fan Shen, Martin J. Somerville, Joëlle Tchinda, Armand Valsesia, Cara Woodwark, Fengtang Yang, Junjun Zhang, Tatiana Zerjal, Jane Zhang, Lluı́s Armengol, Donald F. Conrad, Xavier Estivill, Chris Tyler‐Smith, Nigel P. Carter, Hiroyuki Aburatani, Charles Lee, Keith Jones, Stephen W. Scherer, Matthew E. Hurles

    منشور في 2006
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  19. 19
    Genome-wide characteristics of de novo mutations in autism

    Genome-wide characteristics of de novo mutations in autism حسب Ryan K. C. Yuen, Daniele Merico, Hongzhi Cao, Giovanna Pellecchia, Babak Alipanahi, Bhooma Thiruvahindrapuram, Xin Tong, Yuhui Sun, Dandan Cao, Tao Zhang, Xueli Wu, Xin Jin, Ze Zhou, Xiaomin Liu, Thomas Nalpathamkalam, Susan Walker, Jennifer Howe, Zhuozhi Wang, Jeffrey R. MacDonald, Ada J. S. Chan, Lia D’Abate, Éric Deneault, Michelle T. Siu, Kristiina Tammimies, Mohammed Uddin, Mehdi Zarrei, Mingbang Wang, Yingrui Li, Jun Wang, Jian Wang, Huanming Yang, Matt Bookman, Jonathan Bingham, Samuel S. Gross, Dion Loy, Mathew T. Pletcher, Christian R. Marshall, Evdokia Anagnostou, Lonnie Zwaigenbaum, Rosanna Weksberg, Bridget A. Fernandez, Wendy Roberts, Peter Szatmari, David Glazer, Brendan J. Frey, Robert H. Ring, Xun Xu, Stephen W. Scherer

    منشور في 2016
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  20. 20
    The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

    The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants حسب Miriam S. Reuter, Susan Walker, Bhooma Thiruvahindrapuram, J. Andrew Whitney, Iris Cohn, Neal Sondheimer, Ryan K. C. Yuen, Brett Trost, Tara Paton, Sérgio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Daniele Merico, Jennifer Howe, Jeffrey R. MacDonald, Chao Lu, Thomas Nalpathamkalam, Wilson W. L. Sung, Zhuozhi Wang, Rohan Patel, Giovanna Pellecchia, John Wei, Lisa J. Strug, Sherilyn L. Bell, Barbara Kellam, Melanie M. Mahtani, Anne S. Bassett, Yvonne Bombard, Rosanna Weksberg, Cheryl Shuman, Ronald D. Cohn, Dimitri J. Stavropoulos, Sarah Bowdin, Matthew R. Hildebrandt, Wei Wei, Asli Romm, Peter Pasceri, James Ellis, Peter N. Ray, M. Stephen Meyn, Nasim Monfared, S. Mohsen Hosseini, Ann M. Joseph‐George, Fred W. Keeley, R Cook, Marc Fiume, Hin C Lee, Christian R. Marshall, Janet M. Davies, Allison Hazell, Janet A. Buchanan, Michael J. Szego, Stephen W. Scherer

    منشور في 2018
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