Searching journal content for James Lupski in author.

Displaying results 1-10 of 13
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  1. Method: Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements
    • Xiaofei Song,
    • Christine R. Beck,
    • Renqian Du,
    • Ian M. Campbell,
    • Zeynep Coban-Akdemir,
    • Shen Gu,
    • Amy M. Breman,
    • Pawel Stankiewicz,
    • Grzegorz Ira,
    • Chad A. Shaw,
    • and James R. Lupski
    Genome Res. August 2018 28: 1228-1242; Published in Advance June 15, 2018, doi:10.1101/gr.229401.117
  2. Research: Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles
    • Philip M. Boone,
    • Ian M. Campbell,
    • Brett C. Baggett,
    • Zachry T. Soens,
    • Mitchell M. Rao,
    • Patricia M. Hixson,
    • Ankita Patel,
    • Weimin Bi,
    • Sau Wai Cheung,
    • Seema R. Lalani,
    • Arthur L. Beaudet,
    • Pawel Stankiewicz,
    • Chad A. Shaw,
    • and James R. Lupski
    Genome Res. September 2013 23: 1383-1394; Published in Advance May 16, 2013, doi:10.1101/gr.156075.113
  3. Research: NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits
    • Piotr Dittwald,
    • Tomasz Gambin,
    • Przemyslaw Szafranski,
    • Jian Li,
    • Stephen Amato,
    • Michael Y. Divon,
    • Lisa Ximena Rodríguez Rojas,
    • Lindsay E. Elton,
    • Daryl A. Scott,
    • Christian P. Schaaf,
    • Wilfredo Torres-Martinez,
    • Abby K. Stevens,
    • Jill A. Rosenfeld,
    • Satish Agadi,
    • David Francis,
    • Sung-Hae L. Kang,
    • Amy Breman,
    • Seema R. Lalani,
    • Carlos A. Bacino,
    • Weimin Bi,
    • Aleksandar Milosavljevic,
    • Arthur L. Beaudet,
    • Ankita Patel,
    • Chad A. Shaw,
    • James R. Lupski,
    • Anna Gambin,
    • Sau Wai Cheung,
    • and Pawel Stankiewicz
    Genome Res. September 2013 23: 1395-1409; Published in Advance May 8, 2013, doi:10.1101/gr.152454.112
  4. Research: Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes
    • Zhishuo Ou,
    • Paweł Stankiewicz,
    • Zhilian Xia,
    • Amy M. Breman,
    • Brian Dawson,
    • Joanna Wiszniewska,
    • Przemyslaw Szafranski,
    • M. Lance Cooper,
    • Mitchell Rao,
    • Lina Shao,
    • Sarah T. South,
    • Karlene Coleman,
    • Paul M. Fernhoff,
    • Marcel J. Deray,
    • Sally Rosengren,
    • Elizabeth R. Roeder,
    • Victoria B. Enciso,
    • A. Craig Chinault,
    • Ankita Patel,
    • Sung-Hae L. Kang,
    • Chad A. Shaw,
    • James R. Lupski,
    • and Sau W. Cheung
    Genome Res. January 2011 21: 33-46; doi:10.1101/gr.111609.110
    OPEN ACCESS ARTICLE
  5. LETTER: Copy number variation at the breakpoint region of isochromosome 17q
    • Claudia M.B. Carvalho and
    • James R. Lupski
    Genome Res. November 2008 18: 1724-1732; Published in Advance August 19, 2008, doi:10.1101/gr.080697.108
  6. LETTER: AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12
    • Melanie Babcock,
    • Svetlana Yatsenko,
    • Pawel Stankiewicz,
    • James R. Lupski,
    • and Bernice E. Morrow
    Genome Res. April 2007 17: 451-460; Published in Advance February 6, 2007, doi:10.1101/gr.5651507
  7. ARTICLE: Serial segmental duplications during primate evolution result in complex human genome architecture
    • Paweł Stankiewicz,
    • Christine J. Shaw,
    • Marjorie Withers,
    • Ken Inoue,
    • and James R. Lupski
    Genome Res. November 2004 14: 2209-2220; doi:10.1101/gr.2746604
  8. ARTICLE: Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs
    • Sung-Sup Park,
    • Paweł Stankiewicz,
    • Weimin Bi,
    • Christine Shaw,
    • Jessica Lehoczky,
    • Ken Dewar,
    • Bruce Birren,
    • and James R. Lupski
    Genome Res. May 1, 2002 12: 729-738; doi:10.1101/gr.82802
  9. ARTICLE: Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse
    • Weimin Bi,
    • Jiong Yan,
    • Paweł Stankiewicz,
    • Sung-Sup Park,
    • Katherina Walz,
    • Cornelius F. Boerkoel,
    • Lorraine Potocki,
    • Lisa G. Shaffer,
    • Koen Devriendt,
    • Małgorzata J.M. Nowaczyk,
    • Ken Inoue,
    • and James R. Lupski
    Genome Res. May 1, 2002 12: 713-728; doi:10.1101/gr.73702
  10. LETTER: The Evolutionary Chromosome Translocation 4;19 in Gorilla gorilla is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP
    • Pawel Stankiewicz,
    • Sung-Sup Park,
    • Ken Inoue,
    • and James R. Lupski
    Genome Res. July 1, 2001 11: 1205-1210; doi:10.1101/gr.181101
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