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Research

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia

  • Sanchita Bhattacharya
  • Jian Li
  • Alexandra Sockell
  • Matthew J. Kan
  • Felice A. Bava
  • Shann-Ching Chen María C. Ávila-Arcos Xuhuai Ji Emery Smith Narges B. Asadi Ralph S. Lachman
  • ... [+6 authors] ...,
  • Hugo Y.K. Lam
  • Carlos D. Bustamante
  • Atul J. Butte
  • Garry P. Nolan
  • First Published March 22, 2018
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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