Searching journal content for Jill A. Rosenfeld in author.

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  1. Research: Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps
    • Kristine Bilgrav Saether,
    • Jesper Eisfeldt,
    • Jesse D. Bengtsson,
    • Ming Yin Lun,
    • Christopher M. Grochowski,
    • Medhat Mahmoud,
    • Hsiao-Tuan Chao,
    • Jill A. Rosenfeld,
    • Pengfei Liu,
    • Marlene Ek,
    • Jakob Schuy,
    • Adam Ameur,
    • Hongzheng Dai,
    • Undiagnosed Diseases Network,
    • James Paul Hwang,
    • Fritz J. Sedlazeck,
    • Weimin Bi,
    • Ronit Marom,
    • Josephine Wincent,
    • Ann Nordgren,
    • Claudia M.B. Carvalho,
    • and Anna Lindstrand
    Genome Res. November 2024 34: 1785-1797; Published in Advance November 1, 2024, doi:10.1101/gr.279346.124
    OPEN ACCESS ARTICLE
  2. 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
  3. Research: Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH
    • Nicholas J. Neill,
    • Blake C. Ballif,
    • Allen N. Lamb,
    • Sumit Parikh,
    • J. Britt Ravnan,
    • Roger A. Schultz,
    • Beth S. Torchia,
    • Jill A. Rosenfeld,
    • and Lisa G. Shaffer
    Genome Res. April 2011 21: 535-544; Published in Advance March 7, 2011, doi:10.1101/gr.114579.110
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