Olga A Shchagina (A V Polyakov, Olga Shchagina, O A Shchagina)

ResearcherID Scopus Author ID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 41

Top Topics

Cystic Fibrosis

Top Venues

International journal of molecular sciences

Journal of clinical immunology

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

This page only lists publications with an associated author ORCID identifier.

Publications

Maria Akhkiamova, Aleksander Polyakov, Andrey A Marakhonov, Sergey Voronin, Elena Saifullina, Zulfiia Vafina, Kristina Michalchuk, Svetlana Braslavskaya, Alena Chukhrova, Nina Ryadninskaya, Sergey Kutsev, Olga A Shchagina
Rare Variants of the SMN1 Gene Detected during Neonatal Screening. Genes 15 (7) (2024)
Andrey A Marakhonov, Irina Yu Efimova, Anna A Mukhina, Rena A Zinchenko, Natalia V Balinova, Yulia Rodina, Dmitriy Pershin, Oxana P Ryzhkova, Anna A Orlova, Viktoriia V Zabnenkova, Tatiana B Cherevatova, Tatiana S Beskorovainaya, Olga A Shchagina, Alexander V Polyakov, Zhanna G Markova, Marina E Minzhenkova, Nadezhda V Shilova, Sergey S Larin, Maryam B Khadzhieva, Ekaterina S Dudina, Ekaterina V Kalinina, Dzhaina A Mudaeva, Djamila H Saydaeva, Svetlana A Matulevich, Elena Yu Belyashova, Grigoriy I Yakubovskiy, Inna S Tebieva, Yulia V Gabisova, Nataliya A Irinina, Liya R Nurgalieva, Elena V Saifullina, Tatiana I Belyaeva, Olga S Romanova, Sergey V Voronin, Anna Shcherbina, Sergey I Kutsev
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns. Journal of clinical immunology 44 (4) (2024)
Inna S Tebieva, Polina V Mishakova, Yulia V Gabisova, Alana V Khokhova, Tamara G Kaloeva, Andrey A Marakhonov, Olga A Shchagina, Alexander V Polyakov, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. International journal of molecular sciences 25 (9) (2024)
Andrey A Marakhonov, Irina Yu Efimova, Anna A Mukhina, Rena A Zinchenko, Natalia V Balinova, Yulia Rodina, Dmitriy Pershin, Oxana P Ryzhkova, Anna A Orlova, Viktoriia V Zabnenkova, Tatiana B Cherevatova, Tatiana S Beskorovainaya, Olga A Shchagina, Alexander V Polyakov, Zhanna G Markova, Marina E Minzhenkova, Nadezhda V Shilova, Sergey S Larin, Maryam B Khadzhieva, Ekaterina S Dudina, Ekaterina V Kalinina, Dzhaina A Mudaeva, Djamila H Saydaeva, Svetlana A Matulevich, Elena Yu Belyashova, Grigoriy I Yakubovskiy, Inna S Tebieva, Yulia V Gabisova, Nataliya A Irinina, Liya R Nurgalieva, Elena V Saifullina, Tatiana I Belyaeva, Olga S Romanova, Sergey V Voronin, Anna Shcherbina, Sergey I Kutsev
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns. Journal of clinical immunology 44 (4) (2024)
Inna S Tebieva, Polina V Mishakova, Yulia V Gabisova, Alana V Khokhova, Tamara G Kaloeva, Andrey A Marakhonov, Olga A Shchagina, Alexander V Polyakov, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. International journal of molecular sciences 25 (9) (2024)
Sofya A Ionova, Aysylu F Murtazina, Andrey A Marakhonov, Olga A Shchagina, Nina V Ryadninskaya, Inna S Tebieva, Vitaly V Kadyshev, Artem O Borovikov, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania. International journal of molecular sciences 25 (17) (2024)
Maria Akhkiamova, Aleksander Polyakov, Andrey A Marakhonov, Sergey Voronin, Elena Saifullina, Zulfiia Vafina, Kristina Michalchuk, Svetlana Braslavskaya, Alena Chukhrova, Nina Ryadninskaya, Sergey Kutsev, Olga A Shchagina
Rare Variants of the SMN1 Gene Detected during Neonatal Screening. Genes 15 (7) (2024)
Inna S Tebieva, Polina V Mishakova, Yulia V Gabisova, Alana V Khokhova, Tamara G Kaloeva, Andrey A Marakhonov, Olga A Shchagina, Alexander V Polyakov, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. International journal of molecular sciences 25 (9) (2024)
Maria Akhkiamova, Aleksander Polyakov, Andrey A Marakhonov, Sergey Voronin, Elena Saifullina, Zulfiia Vafina, Kristina Michalchuk, Svetlana Braslavskaya, Alena Chukhrova, Nina Ryadninskaya, Sergey Kutsev, Olga A Shchagina
Rare Variants of the SMN1 Gene Detected during Neonatal Screening. Genes 15 (7) (2024)
Maria Akhkiamova, Aleksander Polyakov, Andrey A Marakhonov, Sergey Voronin, Elena Saifullina, Zulfiia Vafina, Kristina Michalchuk, Svetlana Braslavskaya, Alena Chukhrova, Nina Ryadninskaya, Sergey Kutsev, Olga A Shchagina
Rare Variants of the SMN1 Gene Detected during Neonatal Screening. Genes 15 (7) (2024)
Andrey A Marakhonov, Irina Yu Efimova, Anna A Mukhina, Rena A Zinchenko, Natalia V Balinova, Yulia Rodina, Dmitriy Pershin, Oxana P Ryzhkova, Anna A Orlova, Viktoriia V Zabnenkova, Tatiana B Cherevatova, Tatiana S Beskorovainaya, Olga A Shchagina, Alexander V Polyakov, Zhanna G Markova, Marina E Minzhenkova, Nadezhda V Shilova, Sergey S Larin, Maryam B Khadzhieva, Ekaterina S Dudina, Ekaterina V Kalinina, Dzhaina A Mudaeva, Djamila H Saydaeva, Svetlana A Matulevich, Elena Yu Belyashova, Grigoriy I Yakubovskiy, Inna S Tebieva, Yulia V Gabisova, Nataliya A Irinina, Liya R Nurgalieva, Elena V Saifullina, Tatiana I Belyaeva, Olga S Romanova, Sergey V Voronin, Anna Shcherbina, Sergey I Kutsev
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns. Journal of clinical immunology 44 (4) (2024)
Vyacheslav Chernykh, Stanislav Krasovsky, Olga Aleksandrovna Solovova, Tagui Adyan, Anna Stepanova, Ekaterina Marnat, Maria Shtaut, Anna Sedova, Tatyana Sorokina, Tatyana Beskorovainaya, Elena I Kondratyeva, Olga A Shchagina, Aleksandr Polyakov
Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome. International journal of molecular sciences 24 (22) (2023)
Natalia A Semenova, Olga Mironovich, Olga A Shchagina, Elena Kamenec, Andrey A Marakhonov, Anna V Degtyareva, Natalia Taran, Tatiana Strokova
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs ( ATP6AP1 ), and Liver Transplantation. International journal of molecular sciences 24 (8) (2023)
Elena S Merkuryeva, Tatiana Vladimirovna Markova, Anton Tyurin, Diana Valeeva, Vladimir Kenis, Maria Sumina, Igor Sorokin, Olga A Shchagina, Mikhail Yurevich Skoblov, Maria Nefedova, Rita Khusainova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant. International journal of molecular sciences 24 (9) (2023)
Vyacheslav Chernykh, Tatyana Sorokina, Anna Sedova, Maria Shtaut, Olga Aleksandrovna Solovova, Ekaterina Marnat, Tagui Adyan, Tatyana Beskorovaynaya, Anna Stepanova, Olga A Shchagina, Aleksandr Polyakov
L138ins Variant of the CFTR Gene in Russian Infertile Men. Genes 14 (7) (2023)
Elena S Merkuryeva, Tatiana Vladimirovna Markova, Anton Tyurin, Diana Valeeva, Vladimir Kenis, Maria Sumina, Igor Sorokin, Olga A Shchagina, Mikhail Yurevich Skoblov, Maria Nefedova, Rita Khusainova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant. International journal of molecular sciences 24 (9) (2023)
Olga A Shchagina, Mariya Orlova, Aysylu F Murtazina, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Elena Dadali
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. International journal of molecular sciences 24 (12) (2023)
Natalia A Semenova, Olga Mironovich, Olga A Shchagina, Elena Kamenec, Andrey A Marakhonov, Anna V Degtyareva, Natalia Taran, Tatiana Strokova
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs ( ATP6AP1 ), and Liver Transplantation. International journal of molecular sciences 24 (8) (2023)
Olga A Shchagina, Elena Gracheva, Alyona Chukhrova, Elena A Bliznetz, Igor O Bychkov, Sergey Kutsev, Aleksander Polyakov
Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema. Biomedicines 12 (1) (2023)
Anna A Stepanova, Natalya Ogorodova, Vitaly V Kadyshev, Olga A Shchagina, Sergei Kutsev, Aleksandr Polyakov
A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation. Genes 14 (11) (2023)
Olga A Shchagina, Elena Gracheva, Alyona Chukhrova, Elena A Bliznetz, Igor O Bychkov, Sergey Kutsev, Aleksander Polyakov
Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema. Biomedicines 12 (1) (2023)
Natalia A Semenova, Olga Mironovich, Olga A Shchagina, Elena Kamenec, Andrey A Marakhonov, Anna V Degtyareva, Natalia Taran, Tatiana Strokova
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs ( ATP6AP1 ), and Liver Transplantation. International journal of molecular sciences 24 (8) (2023)
Natalia A Semenova, Olga Mironovich, Olga A Shchagina, Elena Kamenec, Andrey A Marakhonov, Anna V Degtyareva, Natalia Taran, Tatiana Strokova
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs ( ATP6AP1 ), and Liver Transplantation. International journal of molecular sciences 24 (8) (2023)
G E Rudenskaya, Fedor A Konovalov, Sergey Nikolaevich Illarioshkin, Olga A Shchagina
[Gerstmann-Sträussler disease: a familial case with common PRNP mutation and atypical features]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 123 (2) (2023)
Kristina Michalchuk, Olga A Shchagina, Alena Chukhrova, Viktoriia V Zabnenkova, Polina Chausova, Nina Ryadninskaya, Dmitry V Vlodavets, Sergei I Kutsev, Alexander Polyakov
Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation. International journal of neonatal screening 9 (2) (2023)
Olga A Shchagina, Mariya Orlova, Aysylu F Murtazina, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Elena Dadali
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. International journal of molecular sciences 24 (12) (2023)
Olga A Shchagina, Mariya Orlova, Aysylu F Murtazina, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Elena Dadali
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. International journal of molecular sciences 24 (12) (2023)
G E Rudenskaya, I G Sermyagina, Alena Chukhrova, E L Dadali, Ekaterina R Tolmacheva, Olga A Shchagina
[Diversity of CACNA1A-related disorders]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 121 (12) (2022)
Aysylu F Murtazina, Nina Demina, Polina Chausova, Olga A Shchagina, Artem O Borovikov, Elena Dadali
The First Russian Patient with Native American Myopathy. Genes 13 (2) (2022)
Viktoriia V Zabnenkova, Olga A Shchagina, Olga Makienko, Galina Matyushchenko, Oxana P Ryzhkova
Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome. The application of clinical genetics 15 (2022)
Aysylu F Murtazina, Sergey Nikitin, Galina Rudenskaya, Inna Sharkova, Artem O Borovikov, Peter A Sparber, Olga A Shchagina, Alena Chukhrova, Oxana P Ryzhkova, Olga Mironovich, Anna A Orlova, Vasilisa Udalova, Ilya Kanivets, Sergey Korostelev, Alexander Polyakov, Elena Dadali, Sergey Kutsev
Genetic and Clinical Spectrum of GNE Myopathy in Russia. Genes 13 (11) (2022)
Sofya A Ionova, Aysylu F Murtazina, Inna S Tebieva, Zalina K Getoeva, Elena L Dadali, Polina A Chausova, Olga A Shchagina, Andrey A Marakhonov, Sergey I Kutsev, Rena A Zinchenko
The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene. International journal of molecular sciences 23 (20) (2022)
Kirill Savostyanov, Nikolay Murashkin, Alexander Pushkov, Ilya S Zhanin, Elkhan Suleymanov, Mariya Akhkiamova, Olga A Shchagina, Elena Balanovska, Roman Epishev, Aleksander Polyakov, Andrey Fisenko
Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children. International journal of molecular sciences 23 (22) (2022)
Olga Levchenko, Elena Dadali, Ludmila Bessonova, Nina Demina, Galina Rudenskaya, Galina Matyushchenko, Tatiana Vladimirovna Markova, Inga Anisimova, Natalia Semenova, Olga A Shchagina, Oxana Ryzhkova, Rena A Zinchenko, Varvara Galkina, Victoria Voinova, Sabina Nagieva, Alexander Lavrov
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder. International journal of molecular sciences 23 (14) (2022)
Elena Zinina, Maria Bulakh, Alena Chukhrova, Oxana P Ryzhkova, Peter A Sparber, Olga A Shchagina, Aleksander Polyakov, Sergey Kutsev
Specificities of the DMD Gene Mutation Spectrum in Russian Patients. International journal of molecular sciences 23 (21) (2022)
Olga A Shchagina, Valeriy Fedotov, Tatiana Vladimirovna Markova, Olga Mironovich, Oksana Ryzhkova, Tatiana Fedotova, Aleksander Polyakov
Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases. International journal of molecular sciences 23 (17) (2022)
G E Rudenskaya, E A Shestopalova, V A Kadnikova, Olga A Shchagina
[Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 122 (3) (2022)
Tatiana Vladimirovna Markova, Vladimir Kenis, Evgenii Melchenko, Aynur Alieva, Tatiana Nagornova, Anna A Orlova, Natalya Ogorodova, Olga A Shchagina, Alexander Polyakov, Elena Dadali, Sergey Kutsev
Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4. Genes 13 (9) (2022)
Olga A Shchagina, Ludmila Bessonova, Igor Bychkov, Tatiana Beskorovainaya, Aleksander Poliakov
A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings. Genes 11 (7) (2020)
G E Rudenskaya, V A Kadnikova, Oxana P Ryzhkova, L A Bessonova, E L Dadali, Daria Guseva, Tatiana Vladimirovna Markova, D N Khmelkova, Olga A Shchagina
KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families. BMC neurology 20 (1) (2020)
Olga A Shchagina, Tatiana B Cherevatova, Aysylu F Murtazina, G E Rudenskaya, S S Nikitin, E L Dadali, Alexander V Polyakov
HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients. Molecular biology reports 47 (2) (2019)