Author

Sergey A. Korostelev

Observed names: S A Korostelev, S. A. Korostelev, S. Korostelev, S. A. Korostelev, S.A. Korostelev, S.A.Korostelev S.A.Korostelev, Sergey Korostelev, Коростелев, С.А., С. А. Коростелев, С.А. Коростелев

Observed institutions: Sechenov University, Pirogov Russian National Research Medical University, Russian Cancer Research Center NN Blokhin, Ural State Medical University, Russian Medical Academy of Continuous Professional Education, Ministry of Health of the Russian Federation, Research Centre for Medical Genetics, Genomed (Poland)

ORCID: 0000-0002-3816-8031

Observed ORCID: 0000-0002-3816-8031

OpenAlex ID: A5019024924

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

2021 · Katrine M Johannesen, Yuanyuan Liu, et al. · Brain · 159

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De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

2018 · F. Tran Mau-Them, L. Guibaud, et al. · Genetics in Medicine · 61

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De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features

2018 · Ekaterina R. Lozier, Fedor A. Konovalov, et al. · Journal of Human Genetics · 44

Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene

2020 · Marina V. Kurkina, Svetlana V. Mihaylova, et al. · Metabolic Brain Disease · 26

Genetic and Clinical Spectrum of GNE Myopathy in Russia

2022 · Aysylu Murtazina, Sergey Nikitin, et al. · Genes · 14

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Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia

2021 · Peter Sparber, Tatiana Krylova, et al. · Parkinsonism & Related Disorders · 11

Structural variations of the genome in autistic spectrum disorders with intellectual disability

2016 · I. Yu. Iourov, S. G. Vorsanova, et al. · S S Korsakov Journal of Neurology and Psychiatry · 11

Epigenomic variations manifesting as a loss of heterozygosity affecting imprinted genes represent a molecular mechanism of autism spectrum disorders and intellectual disability in children

2019 · I. Y. Iourov, S. G. Vorsanova, et al. · S S Korsakov Journal of Neurology and Psychiatry · 10

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA‐KUČINSKAS syndrome

2018 · Alexandra Filatova, Valeria Freire, et al. · Clinical Genetics · 10

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Association of non-invasive prenatal testing and chromosomal microarray analysis for prenatal diagnostics

2014 · S. Korostelev, G. Totchiev, et al. · Gynecological Endocrinology · 6

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

2020 · Tatyana A. Vasilyeva, Andrey V. Marakhonov, et al. · BMC Medical Genomics · 5

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Pharmacokinetics of carotenoids and carotene containing compounds

2017 · A. V. Sergeev, V. S. Anan’Ev, et al. · Russian Journal of Biotherapy · 5

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SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold

2021 · J.K. Kievskaya, N.V. Shilova, et al. · Современные технологии в медицине · 4

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The role of fetal chromosomal aberrations in the genesis of recurrent and sporadic miscarriage

2021 · E.V.Kudryavtseva E.V.Kudryavtseva, V.V.Kovalev V.V.Kovalev, et al. · Voprosy ginekologii akušerstva i perinatologii · 4

Early epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patients

2018 · E. L. Dadali, F. A. Konovalov, et al. · Neuromuscular Diseases · 4

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The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

2024 · Artem Borovikov, Nailya Galeeva, et al. · Human Mutation · 3

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Epidemiologic, clinical and pathogenesis features of achromatopsia in the Russian population

2020 · M. E. Ivanova, I. V. Zolnikova, et al. · Russian Ophthalmological Journal · 3

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The use of chromosomal microarray analysis in clinical practice

2020 · OOO «Genomed», Moscow, Russian Federation, Yu.K. Kievskaya, et al. · Voprosy ginekologii akušerstva i perinatologii · 3

Cell-free-fetal DNA: an experience of population screening for chromosome pathology in Russia

2019 · E.V. Kudryavtseva, V.V. Kovalev, et al. · Voprosy ginekologii akušerstva i perinatologii · 3

DNA copy number variations of blood lymphocytes in people exposed to occupational irradiation as a possible marker of high radiosensitivity

2015 · Nikolai V Litviakov, Maria V. Khalyuzova, et al. · Vestnik Tomskogo gosudarstvennogo universiteta Biologiya · 3

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PSG and Other Candidate Genes as Potential Biomarkers of Therapy Resistance in B-ALL: Insights from Chromosomal Microarray Analysis and Machine Learning

2025 · Valeriya Surimova, Natalya Risinskaya, et al. · International Journal of Molecular Sciences · 2

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Contiguous gene syndrome in severe case of mucopolysaccharidosis type II

2020 · Н.А. Полякова, Е.Ю. Воскобоева, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika» · 2

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Acute rhinosinusitis: basic misconceptions and the possibilities of standardized phitotherapy

2016 · A. Y. Ovchinnikov, M. A. Edzhe, et al. · Meditsinskiy sovet = Medical Council · 2

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15-year experience of moxifloxacin in the treatment of patients with bacterial rhinosinusitis

2015 · A. Y. Ovchinnikov, M. A. Edzhe, et al. · Russian Bulletin of Otorhinolaryngology · 2

Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy

2023 · T.A. Vasilyeva, V.V. Kadyshev, et al. · Russian Annals of Ophthalmology · 1

Works count: 56

Citation count: 402

H-index: 9

I10-index: 9