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N. Ogorodova

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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
Oct 2026

Delineating the Phenotypic Spectrum of SLC26A2-related Skeletal Dysplasias in a Cohort of 115 Patients: Evidence for a Novel Complex Allele Modifying Disease Severity.

PURPOSE SLC26A2-related skeletal dysplasias range from recessive multiple epiphyseal dysplasia (rMED) to lethal atelosteogenesis type 2, but factors underlying clinical variability are not fully defined. This study aimed to delineate genotype-phenotype correlations and identify disease modifiers in the largest cohort r...

Daria Gorodilova, T. Markova, V. Kenis et al. · 0 citations

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