Julie Cohen

Research output

Research output per year 2007 2017 2018 2019 2020 2021 2023

• 65 Article
• 2 Comment/debate
• 2 Letter
• 1 Chapter
• 1 More
  • 1 Review article

Research output per year

Research output per year

Search results

• 2020

  RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

  Scala, M., Mojarrad, M., Riazuddin, S., Brigatti, K. W., Ammous, Z., Cohen, J. S., Hosny, H., Usmani, M. A., Shahzad, M., Riazuddin, S., Stanley, V., Eslahi, A., Person, R. E., Elbendary, H. M., Comi, A. M., Poskitt, L., Salpietro, V., Genomics, Q. S., Rosenfeld, J. A., Williams, K. B., & 8 othersMarafi, D., Xia, F., Waberski, M. B., Zaki, M. S., Gleeson, J., Puffenberger, E., Houlden, H. & Maroofian, R., Mar 1 2020, In: Brain. 143, 3

  Research output: Contribution to journal › Letter › peer-review

  Open Access
  1 Scopus citations
• 2018

  Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants

  Vernon, H., Cohen, J., De Nittis, P., Fatemi, A., McClellan, R., Goldstein, A., Malerba, N., Guex, N., Reymond, A. & Merla, G., Jun 2018, In: Clinical Genetics. 93, 6, p. 1254-1256 3 p.

  Research output: Contribution to journal › Letter › peer-review
  9 Scopus citations