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Olga L. Shatokhina

Observed names: O. L. Shatokhina, O. Shatokhina, O.L. Shatokhina, Olga Shatohina, Olga Shatokhina, Shatokhina O.L, Шатохина, О.Л.
ORCID: 0000-0003-0351-1271
Observed ORCID: 0000-0003-0351-1271
OpenAlex ID: A5007067554
A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53
2021 · Olga Shatokhina, Natalia Semenova, et al. · Genes · 15
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The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity
2024 · I. Viakhireva, I. Bychkov, et al. · Bone · 14
Genetic and Clinical Spectrum of GNE Myopathy in Russia
2022 · Aysylu Murtazina, Sergey Nikitin, et al. · Genes · 14
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Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation
2023 · Natalia Semenova, Olga Shatokhina, et al. · International Journal of Molecular Sciences · 10
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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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Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss
2022 · Tatiana Markova, Natalia Alekseeva, et al. · Journal of Personalized Medicine · 7
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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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Early audiological phenotype in patients with mutations in the USH2A gene
2022 · T.G. Markova, M.R. Lalayants, et al. · International Journal of Pediatric Otorhinolaryngology · 4
A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations
2025 · Tufatulin G.Sh, Garbaruk E.S, et al. · The Journal of International Advanced Otology · 3
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The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy
2024 · Olga Shatokhina, Fatima Bostanova, et al. · Clinical Genetics · 3
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Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia
2025 · Daria Gorodilova, Elena Dadali, et al. · International Journal of Molecular Sciences · 2
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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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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
Developmental and epileptic encephalopathy produced by the ATP1A2 mutation
2024 · G.E. Rudenskaya, D.M. Guseva, et al. · S S Korsakov Journal of Neurology and Psychiatry · 1
Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss
2024 · Tatiana G. Markova, Alexander V. Polyakov, et al. · The Journal of International Advanced Otology · 1
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TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study
2023 · Olga Shatokhina, Valeriia Kovalskaia, et al. · International Journal of Molecular Sciences · 1
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Juvenile amyotrophic lateral sclerosis type 4: case report and review
2022 · G. E. Rudenskaya, S. S. Nikitin, et al. · Neuromuscular Diseases · 1
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Long-Term Experience in the Molecular Genetic Diagnosis of Friedreich Ataxia in the Russian Federation
2026 · Olga Ismagilova, Tagui Adyan, et al. · Genes
Developmental and Epileptic Encephalopathy Produced by the ATP1A2 Mutation
2024 · G. E. Rudenskaya, D. M. Guseva, et al. · Neuroscience and Behavioral Physiology
Author response for "The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy"
2024 · Olga Shatokhina, Fatima Bostanova, et al. · Publons reviews and discussion
Сongenital merozin-negative muscular dystrophy: from diagnosis to treatment prospects
2022 · Чаусова, П.А., Миловидова, Т.Б., et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
Spastic paraplegia type 47 in Russian patients
2022 · Кадникова, В.А., Руденская, Г.Е., et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
Clinical, Genetic and Orthopedic Characteristics of Desbuquois Dysplasia
2021 · Tatyana V. Markova, Vladimir M. Kenis, et al. · Traumatology and Orthopedics of Russia
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Works count: 23
Citation count: 93
H-index: 6
I10-index: 4
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