Aysylu F. Murtazina

The paper describes the Russian FSHD registry, analyzing clinical and genetic data to identify disease trajectories and demographic patterns in a national cohort.

The paper creates a promoterome and proteome atlas of human skeletal muscles, revealing molecular diversity and identifying key transcription factors and genetic variants associated with muscle traits.

The paper presents a framework for interpreting TTN missense variants by integrating clinical, computational, and functional evidence, identifying two variants as likely pathogenic.