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Anna A. Stepanova

Observed names: A. A. Stepanova, A. Stepanova, A.A. Stepanova, Anna Aleksandrovna Stepanova, Anna Stepanova
ORCID: 0000-0003-0416-8137
Observed ORCID: 0000-0003-0416-8137
OpenAlex ID: A5101920960
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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Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
2019 · V. A. Kadnikova, G. E. Rudenskaya, et al. · Scientific Reports · 28
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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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BH4-deficient hyperphenylalaninemia in Russia
2021 · Polina Gundorova, Irina A. Kuznetcova, et al. · PLoS ONE · 15
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Mutation spectrum of the PAH gene in phenylketonuria patients in the Karachay-Cherkess Republic (Russia)
2016 · P. Gundorova, A. A. Stepanova, et al. · Russian Journal of Genetics · 9
Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel
2022 · Olga Shatokhina, Nailya Galeeva, et al. · International Journal of Molecular Sciences · 8
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A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation
2023 · Anna Stepanova, Natalya Ogorodova, et al. · Genes · 7
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Clinical course of cystic fibrosis on adult patients carrying "mild" mutations
2012 · S. A. Krasovsky, N. V. Petrova, et al. · PULMONOLOGIYA · 7
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Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome
2023 · Vyacheslav Chernykh, Stanislav Krasovsky, et al. · International Journal of Molecular Sciences · 6
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L467F;F508del Complex Allele in a Heterozygous State with CFTRdele2,3: What to Expect from CFTR Modulators?
2025 · Elena Kondratyeva, Anna Efremova, et al. · International Journal of Molecular Sciences · 5
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L138ins Variant of the CFTR Gene in Russian Infertile Men
2023 · Vyacheslav Chernykh, Tatyana Sorokina, et al. · Genes · 4
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CFTR Gene Variants and Genotypes in Russian Patients with CBAVD Syndrome
2020 · E. G. Marnat, T. A. Adyan, et al. · Russian Journal of Genetics · 4
Genotyping of patients with phenylketonuria from different regions of Russia for determining BH4 responsiveness
2017 · P. Gundorova, A. A. Stepanova, et al. · Russian Journal of Genetics · 4
Инновационные методы диагностики и терапии муковисцидоза
2025 · S.N. Avdeev, A.V. Abrukova, et al. · 3
A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa
2024 · Natalya Ogorodova, Anna Stepanova, et al. · International Journal of Molecular Sciences · 3
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Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene
2022 · Artem Sharkov, Peter Sparber, et al. · Frontiers in Genetics · 3
Updating Diagnostic Spectrum of Recurring CFTR Mutations
2018 · T. A. Adyan, A. A. Stepanova, et al. · Russian Journal of Genetics · 3
10 Mild cystic fibrosis phenotype in adult patients with novel 3272–16T>A mutation
2015 · S. Krasovskiy, E. Amelina, et al. · Journal of Cystic Fibrosis · 3
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Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population
2023 · Vitaly V. Kadyshev, Ekaterina A. Alekseeva, et al. · International Journal of Molecular Sciences · 2
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X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
2023 · Polina Chausova, Aysylu Murtazina, et al. · International Journal of Molecular Sciences · 2
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Inherited retinal dystrophy: first results of RPE65 gene replacement therapy in Russia
2022 · V.V. Kadyshev, I.V. Zolnikova, et al. · Russian Annals of Ophthalmology · 2
Mutations in the gjb2 gene in children with bilateral hearing loss in Kyrgyzstan
2020 · V. V. Khalfina, A. A. Stepanova, et al. · Russian otorhinolaryngology · 2
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X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation
2019 · T.B. Milovidova, O.A. Schagina, et al. · Journal of the European Academy of Dermatology and Venereology · 2
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The impact of genotype on clinical course of cystic fibrosis (CF) in adult patients
2013 · Stanislav Krasovskij, Elena Amelina, et al. · European Respiratory Journal · 2
Features of cystic fibrosis in the Chuvash Republic
2013 · O. I. Golubtsova, S. A. Krasovsky, et al. · PULMONOLOGIYA · 2
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Works count: 35
Citation count: 193
H-index: 7
I10-index: 4
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