Kristina Shefer

4PUBLICATIONS
12CO-AUTHORS
Gene mappingGene expression (incl. microarray and other genome-wide approaches)Vision science
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Publications (4)

|Jul 15, 2026
Bayesian Population-Based Prevalence Estimation of <i>KCNV2</i>-Associated Retinopathy: A Comparative Analysis of Disease-Associated Variant Frequencies in Russian and Global Populations.

|Mar 18, 2026
[Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 2. Clinical, social and demographic characteristics of inherited retinal pathologies].

V V Kadyshev, A A Stepanova, K K Shefer

|Mar 18, 2026
[Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 1. Molecular genetic characteristics of inherited retinal pathologies].

V V Kadyshev, A A Stepanova, K K Shefer

|Aug 29, 2024
Novel and Previously Known Mutations of the <i>KCNV2</i> Gene Cause Various Variants of the Clinical Course of Cone Dystrophy with Supernormal Rod Response in Children.

Almaqdad Alsalloum, Ilya Mosin, Kristina Shefer

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Frequent Collaborators

3 joint publications

Vitaly V Kadyshev

2 joint publications

A A Stepanova

2 joint publications

I V Kondrashina

2 joint publications

O A Shchagina