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Author

A. Monakhova

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Open access Oct 2026

Whole-Genome Sequencing in Diagnostics of Unsolved Cases of Inherited Retinal Diseases

The study purpose was to assess the diagnostic value of whole-genome sequencing (WGS) in identifying candidate genetic variants in patients with inherited retinal diseases (IRDs). We investigated 107 unrelated Russian patients with retinal diseases who carried single pathogenic variants in any of nine common autosomal...

N. Ogorodova, A. Stepanova, Polina Geletskaia 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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