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Research

Optical genome mapping identifies rare structural variants in neural tube defects

  • Nikhil S. Sahajpal
  • Jane Dean
  • Benjamin Hilton
  • Timothy Fee
  • Cindy Skinner
  • Alex Hastie
  • ... [+1 authors] ...,
  • Barbara R. DuPont
  • Alka Chaubey
  • Michael J. Friez
  • Roger E. Stevenson
  • First Published March 19, 2025
Methods

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

  • Heather C. Mefford
  • Gregory M. Cooper
  • Troy Zerr
  • Joshua D. Smith
  • Carl Baker
  • Neil Shafer Erik C. Thorland
  • ... [+2 authors] ...,
  • Cindy Skinner
  • Charles E. Schwartz
  • Deborah A. Nickerson
  • Evan E. Eichler
  • First Published June 8, 2009
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