Journal ArticleOPEN ACCESS

Genetic Testing for Malformations of Cortical Development

  • Straka B
  • Hermanovska B
  • Krskova L
  • et al.
Neurology Genetics (2022) 8(5)
DOI: 10.1212/nxg.0000000000200032
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Abstract

Background and Objectives Malformations of cortical development (MCD), though individually rare, constitute a significant burden of disease. The diagnostic yield of next-generation sequencing (NGS) in these patients varies across studies and methods, and novel genes and variants continue to emerge.

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Straka, B., Hermanovska, B., Krskova, L., Zamecnik, J., Vlckova, M., Balascakova, M., … Krsek, P. (2022). Genetic Testing for Malformations of Cortical Development. Neurology Genetics, 8(5). https://doi.org/10.1212/nxg.0000000000200032

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