Sergey Ivanovich Kutsev

The Russian FSHD registry: a first look at the cohort

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

Comprehensive Genetic Study of Russian Hypertrophic Cardiomyopathy Identifies MYBPC3 c.3697C>T as the Predominant Variant in Pediatric and Adult Cohorts

This study identifies MYBPC3 c.3697C>T as a prevalent variant in Russian HCM patients, associated with distinct pediatric and adult phenotypes.

Sanger validation of WGS variants - when to?

This study evaluates concordance between whole genome sequencing variants and Sanger validation to establish thresholds for high-quality variant filtering.