Neurology

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing

  • Authors: Johanna L Schmidt; Amy Pizzino; Jessica Nicholl; Allison Foley; Yue Wang; Jill A. Rosenfeld; Lindsey Mighion; Lora Bean; Cristina da Silva; Megan T. Cho; Rebecca Truty; John Garcia; Virginia Speare; Kirsten Blanco; Zoe Powis; Grace M Hobson; Susan Kirwin; Bryan Krock; Hane Lee; Joshua L. Deignan; Maggie A Westemeyer; Ryan L Subaran; Isabelle Thiffault; Ellen A Tsai; Terry Fang; Guy Helman; Adeline Vanderver
  • Collaborators: Alfred I. duPont Hospital for Children; Baylor College of Medicine; Biogen; Children's Hospital of Philadelphia; Cooper Genomics; EGL Genetics; GeneDx; Invitae Corporation; Lurie Children's Hospital of Chicago | Pediatric Medicine; Natera; The Royal Children's Hospital; The University of Queensland; University of California, Los Angeles; University of Missouri-Kansas City School of Medicine; University of Pennsylvania
  • Journal: American journal of medical genetics
  • Date: 2020 - Aug

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