Cho, Megan Truitt

Top Publications

Top Publications Authored or Co-Authored by "Cho, Megan Truitt"

• Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly

  Nature Genetics, Volume 49, No. 10, Year 2017, Citations 146
• AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

  Nature Communications, Volume 10, No. 1, Article 3094, Year 2019, Citations 120
• Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

  American Journal of Human Genetics, Volume 102, No. 5, Year 2018, Citations 59
• Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

  American Journal of Human Genetics, Volume 103, No. 2, Year 2018, Citations 58
• Redefining the Etiologic Landscape of Cerebellar Malformations

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 57