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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 James Paul Hwang Fritz J. Sedlazeck Weimin Bi Ronit Marom
  • ... [+12 authors] ...,
  • Josephine Wincent
  • Ann Nordgren
  • Claudia M.B. Carvalho
  • Anna Lindstrand
  • First Published November 1, 2024
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
  • ... [+19 authors] ...,
  • James R. Lupski
  • Anna Gambin
  • Sau Wai Cheung
  • Pawel Stankiewicz
  • First Published May 8, 2013
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
  • Lisa G. Shaffer
  • First Published March 7, 2011
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