Genetics in Medicine Open (Jan 2024)

P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders

  • Swetha Ramadesikan,
  • Caitlyn Colwell,
  • Mohammad Marhabaie,
  • Leeran Dublin-Ryan,
  • Iftekhar Showpnil,
  • Umamaheswaran Gurusamy,
  • Jesse Hunter,
  • Allison Daley,
  • Elizabeth Varga,
  • Marco Leung,
  • Rolf Stottmann,
  • Bimal Chaudhari,
  • Scott Hickey,
  • Peter White,
  • Daniel Koboldt,
  • Richard Wilson

Journal volume & issue
Vol. 2
p. 101080

Abstract

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