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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
Letter

Epigenetic profiling at mouse imprinted gene clusters reveals novel epigenetic and genetic features at differentially methylated regions

  • Scott V. Dindot
  • Richard Person
  • Mark Strivens
  • Rejinaldo Garcia
  • Arthur L. Beaudet
  • First Published June 19, 2009
LETTER

Integrated YAC Contig Map of the Prader–Willi/Angelman Region on Chromosome 15q11–q13 with Average STS Spacing of 35 kb

  • Susan L. Christian
  • Nehal K. Bhatt
  • Scott A. Martin
  • James S. Sutcliffe
  • Takeo Kubota
  • Bing Huang
  • ... [+1 authors] ...,
  • Apiwat Mutirangura
  • A. Craig Chinault
  • Arthur L. Beaudet
  • David H. Ledbetter
  • First Published February 1, 1998
LETTER

SNRPN Promoter: In Vitro Methylation Abolishes Promoter Activity" > Sequencing and Functional Analysis of the SNRPN Promoter: In Vitro Methylation Abolishes Promoter Activity

  • A.H.M. Mahbubul Huq
  • James S. Sutcliffe
  • Mitsuyoshi Nakao
  • Ying Shen
  • Richard A. Gibbs
  • Arthur L. Beaudet
  • First Published June 1, 1997
LETTER

UBE3A) Gene Is Localized within a Narrowed Angelman Syndrome Critical Region" > The E6–AP Ubiquitin–Protein Ligase (UBE3A) Gene Is Localized within a Narrowed Angelman Syndrome Critical Region

  • James S. Sutcliffe
  • Yong-hui Jiang
  • Robert-Jan Galjaard
  • Toshinobu Matsuura
  • Ping Fang
  • Takeo Kubota Susan L. Christian
  • ... [+2 authors] ...,
  • Jan Bressler
  • Bruce Cattanach
  • David H. Ledbetter
  • Arthur L. Beaudet
  • First Published April 1, 1997
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