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  • Last updated: Fri, 17 Apr 2026 8:11:39 Z

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

Access & Citations

  • 688
    Article Accesses
  • 8
    Citations

Citation counts are provided by Dimensions and depend on their data availability. Counts will update daily, once available.

Online attention

Altmetric score 2
  • 5 tweeters
  • 10 Mendeley

This article is in the 46th percentile (ranked 221,055th) of the 427,065 tracked articles of a similar age in all journals and the 50th percentile (ranked 8th) of the 16 tracked articles of a similar age in Journal of Human Genetics

View more on Altmetric

Altmetric calculates a score based on the online attention an article receives. The donut visual summarises attention from different sources; a breakdown is shown in the legend. The number in the centre is the Altmetric score. Social media and mainstream news media are the main sources that calculate the score. Reference managers such as Mendeley are also tracked but do not contribute to the score. Older articles often score higher because they have had more time to get noticed. To account for this, Altmetric has included the context data for other articles of a similar age.