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Research

Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing

  • Jesper Eisfeldt
  • Edward J. Higginbotham
  • Felix Lenner
  • Jennifer Howe
  • Bridget A. Fernandez
  • Anna Lindstrand
  • Stephen W. Scherer
  • Lars Feuk
  • First Published October 29, 2024
Method

Sequencing of isolated sperm cells for direct haplotyping of a human genome

  • Ewen F. Kirkness
  • Rashel V. Grindberg
  • Joyclyn Yee-Greenbaum
  • Christian R. Marshall
  • Stephen W. Scherer
  • Roger S. Lasken
  • J. Craig Venter
  • First Published January 2, 2013
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

TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing" > Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing

  • David Monk
  • Alexandre Wagschal
  • Philippe Arnaud
  • Pari-Sima Müller
  • Layla Parker-Katiraee
  • Déborah Bourc’his
  • ... [+1 authors] ...,
  • Stephen W. Scherer
  • Robert Feil
  • Philip Stanier
  • Gudrun E. Moore
  • First Published May 14, 2008
Methods

Accurate and reliable high-throughput detection of copy number variation in the human genome

  • Heike Fiegler
  • Richard Redon
  • Dan Andrews
  • Carol Scott
  • Robert Andrews
  • Carol Carder Richard Clark Oliver Dovey Peter Ellis Lars Feuk Lisa French Paul Hunt Dimitrios Kalaitzopoulos James Larkin Lyndal Montgomery George H. Perry Bob W. Plumb Keith Porter Rachel E. Rigby Diane Rigler Armand Valsesia Cordelia Langford Sean J. Humphray
  • ... [+18 authors] ...,
  • Stephen W. Scherer
  • Charles Lee
  • Matthew E. Hurles
  • Nigel P. Carter
  • First Published November 22, 2006
Methods

Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays

  • Daisuke Komura
  • Fan Shen
  • Shumpei Ishikawa
  • Karen R. Fitch
  • Wenwei Chen
  • Jane Zhang Guoying Liu Sigeo Ihara Hiroshi Nakamura Matthew E. Hurles Charles Lee Stephen W. Scherer
  • ... [+7 authors] ...,
  • Keith W. Jones
  • Michael H. Shapero
  • Jing Huang
  • Hiroyuki Aburatani
  • First Published November 22, 2006
REVIEW

Copy number variation: New insights in genome diversity

  • Jennifer L. Freeman
  • George H. Perry
  • Lars Feuk
  • Richard Redon
  • Steven A. McCarroll
  • David M. Altshuler Hiroyuki Aburatani Keith W. Jones Chris Tyler-Smith
  • ... [+4 authors] ...,
  • Matthew E. Hurles
  • Nigel P. Carter
  • Stephen W. Scherer
  • Charles Lee
  • First Published June 29, 2006
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