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Research

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH

  • Nicholas J. Neill
  • Blake C. Ballif
  • Allen N. Lamb
  • Sumit Parikh
  • J. Britt Ravnan
  • Roger A. Schultz
  • Beth S. Torchia
  • Jill A. Rosenfeld
  • Lisa G. Shaffer
  • First Published March 7, 2011
Method

A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes

  • Sanaa Choufani
  • Jonathan S. Shapiro
  • Martha Susiarjo
  • Darci T. Butcher
  • Daria Grafodatskaya
  • Youliang Lou Jose C. Ferreira Dalila Pinto Stephen W. Scherer Lisa G. Shaffer Philippe Coullin Isabella Caniggia
  • ... [+7 authors] ...,
  • Joseph Beyene
  • Rima Slim
  • Marisa S. Bartolomei
  • Rosanna Weksberg
  • First Published February 7, 2011
LETTER

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)

  • Marzena Gajecka
  • Andrew J. Gentles
  • Albert Tsai
  • David Chitayat
  • Katherine L. Mackay
  • Caron D. Glotzbach
  • Michael R. Lieber
  • Lisa G. Shaffer
  • First Published September 2, 2008
ARTICLE

Alu-Mediated Recombination Events During Evolution" > Shuffling of Genes Within Low-Copy Repeats on 22q11 (LCR22) by Alu-Mediated Recombination Events During Evolution

  • Melanie Babcock
  • Adam Pavlicek
  • Elizabeth Spiteri
  • Catherine D. Kashork
  • Ilya Ioshikhes
  • Lisa G. Shaffer
  • Jerzy Jurka
  • Bernice E. Morrow
  • First Published December 1, 2003
ARTICLE

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

  • Weimin Bi
  • Jiong Yan
  • Paweł Stankiewicz
  • Sung-Sup Park
  • Katherina Walz
  • Cornelius F. Boerkoel Lorraine Potocki Lisa G. Shaffer
  • ... [+3 authors] ...,
  • Koen Devriendt
  • Małgorzata J.M. Nowaczyk
  • Ken Inoue
  • James R. Lupski
  • First Published May 1, 2002
ARTICLE

Methods for precise sizing, automated binning of alleles, and reduction of error rates in large-scale genotyping using fluorescently labeled dinucleotide markers. FUSION (Finland-U.S. Investigation of NIDDM Genetics) Study Group.

  • S Ghosh
  • Z E Karanjawala
  • E R Hauser
  • D Ally
  • J I Knapp
  • J B Rayman A Musick J Tannenbaum C Te S Shapiro W Eldridge T Musick C Martin J R Smith J D Carpten M J Brownstein J I Powell R Whiten P Chines
  • ... [+14 authors] ...,
  • S J Nylund
  • V L Magnuson
  • M Boehnke
  • F S Collins
  • First Published February 1, 1997
ARTICLE

Approach to genotyping errors caused by nontemplated nucleotide addition by Taq DNA polymerase.

  • J R Smith
  • J D Carpten
  • M J Brownstein
  • S Ghosh
  • V L Magnuson
  • D A Gilbert
  • J M Trent
  • F S Collins
  • First Published October 1, 1995
ARTICLE

Use of stock solutions to simplify mRNA quantitation by reverse transcription--PCR assays.

  • D Chen
  • V L Magnuson
  • B Steffensen
  • R J Klebe
  • First Published May 1, 1993
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