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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
  • ... [+5 authors] ...,
  • Arthur L. Beaudet
  • Pawel Stankiewicz
  • Chad A. Shaw
  • James R. Lupski
  • First Published May 16, 2013
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
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