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Author

E. Klimuk

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Open access Sep 2026

Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort

Identifying genetic cause(s) is a key step for management and treatment of patients with inborn errors of immunity (IEI). Here, in an observational cross-sectional genomic study, we analyzed whole-genome sequencing (WGS) data of 72 IEI patients from Saint Petersburg and Northwestern Russia: 42 patients with common vari...

Yunna S. Petrusenko, T. Savin, A. Sedykh et al. · 0 citations
Open access Aug 2026

Analysis of APC promoter 1B deletions in Russian families with familial adenomatous polyposis

The APC 1B promoter deletions analyzed in this study had arisen independently and there is thus no evidence of a founder effect and WGS did not provide an added diagnostic benefit to MLPA aside from precisely determining the deletion breakpoints.

A. S. Tsukanov, Sergey I. Achkasov, A. Loginova et al. · 0 citations

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