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Method

Alu/Alu-mediated rearrangements" > Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

  • Xiaofei Song
  • Christine R. Beck
  • Renqian Du
  • Ian M. Campbell
  • Zeynep Coban-Akdemir
  • Shen Gu Amy M. Breman
  • ... [+2 authors] ...,
  • Pawel Stankiewicz
  • Grzegorz Ira
  • Chad A. Shaw
  • James R. Lupski
  • First Published June 15, 2018
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
LETTER

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12

  • Melanie Babcock
  • Svetlana Yatsenko
  • Pawel Stankiewicz
  • James R. Lupski
  • Bernice E. Morrow
  • First Published February 6, 2007
LETTER

Gorilla gorilla is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP" > The Evolutionary Chromosome Translocation 4;19 in Gorilla gorilla is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP

  • Pawel Stankiewicz
  • Sung-Sup Park
  • Ken Inoue
  • James R. Lupski
  • First Published July 1, 2001
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