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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

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

  • Przemyslaw Szafranski
  • Avinash V. Dharmadhikari
  • Erwin Brosens
  • Priyatansh Gurha
  • Katarzyna E. Kołodziejska
  • Ou Zhishuo Piotr Dittwald Tadeusz Majewski K. Naga Mohan Bo Chen Richard E. Person Dick Tibboel Annelies de Klein Jason Pinner Maya Chopra Girvan Malcolm Gregory Peters Susan Arbuckle Sixto F. Guiang Virginia A. Hustead Jose Jessurun Russel Hirsch David P. Witte Isabelle Maystadt Neil Sebire
  • ... [+20 authors] ...,
  • Richard Fisher
  • Claire Langston
  • Partha Sen
  • Paweł Stankiewicz
  • First Published October 3, 2012
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