Olga Shchagina

55PUBLICATIONS
169CO-AUTHORS
NeonatologyHaematological tumoursGene mappingEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (55)

|Jun 26, 2026
Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation.

|Jun 12, 2026
Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.

|May 27, 2026
Rare SMA Patients: A Comprehensive Look at Clinical Features, Genetic Profiles and Therapeutic Approaches.

|Mar 27, 2026
Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.

Ekaterina Y Zakharova, Galina V Baydakova, Polina V Baranova

|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

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Frequent Collaborators

14 joint publications

Andrey V Marakhonov

11 joint publications

Aysylu Murtazina

10 joint publications

Rena Zinchenko

9 joint publications

Tatiana V Markova