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Aleksander V. Polyakov

Observed names: Aleksander Polyakov, Aleksander V Polyakov
ORCID: 0000-0002-0105-1833
Observed ORCID: 0000-0002-0105-1833
OpenAlex ID: A5113951396
Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia
2019 · Polina Gundorova, Anna A. Stepanova, et al. · PLoS ONE · 37
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Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus
2018 · Polina Gundorova, Rena A. Zinchenko, et al. · PLoS ONE · 26
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Specificities of the DMD Gene Mutation Spectrum in Russian Patients
2022 · Elena Zinina, Maria Bulakh, et al. · International Journal of Molecular Sciences · 19
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BH4-deficient hyperphenylalaninemia in Russia
2021 · Polina Gundorova, Irina A. Kuznetcova, et al. · PLoS ONE · 15
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Letter
2001 · Anna Anichkina, Tatiana Kulenich, et al. · European Journal of Human Genetics · 12
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Spectrum of Mutations in PTPN11 in Russian Cohort
2024 · Anna Orlova, Daria Guseva, et al. · Genes · 8
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Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years
2025 · Anastasiia Milovanova, Petr Ananin, et al. · International Journal of Molecular Sciences · 6
Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases
2022 · Olga Shchagina, Valeriy Fedotov, et al. · International Journal of Molecular Sciences · 6
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Hereditary angioedema. Clinical guidelines. (D84.1)
2021 · Elena A. Bliznetz, Ekaterina A. Viktorova, et al. · Russian Journal of Allergy · 6
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Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis
2025 · Peter A Sparber, Elena V Zinina, et al. · Journal of Neuromuscular Diseases · 5
Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children
2022 · Kirill Savostyanov, Nikolay Murashkin, et al. · International Journal of Molecular Sciences · 5
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The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene
2025 · Olga Shchagina, Leisan Gilazova, et al. · International Journal of Molecular Sciences · 4
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Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples
2023 · Andrey S. Glotov, Vyacheslav B. Chernykh, et al. · Genes · 4
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Comprehensive semen examination in patients with pancreatic-sufficient and pancreatic-insufficient cystic fibrosis
2023 · Anna O Sedova, Maria I Shtaut, et al. · Asian Journal of Andrology · 4
Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy
2025 · Elena Zinina, Maria Bulakh, et al. · Clinical Genetics · 3
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Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients
2024 · Olga Shchagina, Anna Stepanova, et al. · Biomedicines · 3
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Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease
2024 · Olga Shchagina, Aysylu Murtazina, et al. · Frontiers in Genetics · 3
Exploring the Prevalence of SMN1 Duplication and Deletion in Russia and Its Impact on Carrier Screening
2025 · Kristina Mikhalchuk, Aleksander Polyakov, et al. · International Journal of Molecular Sciences · 2
A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation
2025 · Polina Chausova, Tatiana Cherevatova, et al. · International Journal of Molecular Sciences · 2
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Letter
2001 · Anna Anichkina, Tatiana Kulenich, et al. · European Journal of Human Genetics · 2
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Genetic Spectrum of Non‐ PTPN11 Variants in Noonan Syndrome and Related RASopathies : Findings From a Russian Cohort
2026 · Anna Orlova, Olga Shatokhina, et al. · Clinical Genetics · 1
Rare Variants of the SMN1 Gene Detected during Neonatal Screening
2024 · Maria Akhkiamova, Aleksander Polyakov, et al. · Genes · 1
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Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients
2024 · Maria Bulakh, Daria Polyakova, et al. · Gene · 1
Hereditary Angioedema (HAE) with a mutation in the plasminogen gene: a retrospective study of a cohort of 14 patients from Russia
2021 · Irina A. Manto, Elena A. Latysheva, et al. · Russian Journal of Allergy · 1
The prevalence of Duchenne/Becker muscular dystrophy in the Russian Federation
2026 · Elena Kistol, Alexander Pushkov, et al. · Frontiers in Genetics
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Works count: 30
Citation count: 176
H-index: 6
I10-index: 5
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