All Stories

  1. Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent

    Article • American Journal of Medical Genetics Part A, October 2018, Wiley

    John Pappas, Rachel Rabin

  2. Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American Brothers

    Article • Movement Disorders Clinical Practice, December 2017, Wiley

    John Pappas