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Igor O. Bychkov

Observed names: Bychkov, Igor, I. Bychkov, I. O. Bychkov, I.O. Bychkov, I.O. Bychkov Bychkov, Igor Bychkov, И.О. Бычков
ORCID: 0000-0002-6594-6126
Observed ORCID: 0000-0002-6594-6126
OpenAlex ID: A5077932280
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
2021 · Sarah L. Stenton, Natalia L. Sheremet, et al. · Journal of Clinical Investigation · 161
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Plasma FGF‐21 and GDF‐15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders
2019 · Polina G. Tsygankova, Yulia S. Itkis, et al. · Journal of Inherited Metabolic Disease · 49
α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females
2019 · G.V. Baydakova, A.A. Ilyushkina, et al. · Clinica Chimica Acta · 35
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia
2023 · Denis Kistol, Polina Tsygankova, et al. · International Journal of Molecular Sciences · 20
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Complex Transposon Insertion as a Novel Cause of Pompe Disease
2021 · Igor Bychkov, Galina Baydakova, et al. · International Journal of Molecular Sciences · 18
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Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes
2021 · I.O. Bychkov, Y.S. Itkis, et al. · Mitochondrion · 17
Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses
2020 · Galina Baydakova, Alex Ilyushkina, et al. · Diagnostics · 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
Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape
2022 · Igor Bychkov, Antonina Kuznetsova, et al. · npj Genomic Medicine · 11
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POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults
2021 · Evgenii Nuzhnyi, Yury Seliverstov, et al. · Clinical Neurology and Neurosurgery · 10
The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency
2019 · I.O. Bychkov, E.A. Kamenets, et al. · Molecular Genetics and Metabolism · 10
Pathogenetic therapeutic approaches for endocrine diseases based on antisense oligonucleotides and RNA-interference
2025 · Olga Golounina, Ildar Minniakhmetov, et al. · Frontiers in Endocrinology · 9
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Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion
2023 · Peter Sparber, Igor Bychkov, et al. · Human Genetics · 8
Overlapping Phenotype of Adult-Onset ALPK3 -Cardiomyopathy in the Setting of Two Novel Variants
2022 · Olga S. Chumakova, Natalia V. Milovanova, et al. · Cardiology Research · 8
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Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing
2021 · Igor Bychkov, Artur Galushkin, et al. · International Journal of Molecular Sciences · 8
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Alkaptonuria in Russia: mutational spectrum and novel variants
2021 · Igor Bychkov, Elena Kamenets, et al. · European Journal of Medical Genetics · 8
The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation
2018 · G. V. Baydakova, T. A. Ivanova, et al. · JIMD Reports · 6
A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings
2020 · Olga Shchagina, Ludmila Bessonova, et al. · Genes · 5
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Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C
2021 · Igor Bychkov, Alexandra Filatova, et al. · European Journal of Human Genetics · 4
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Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia
2019 · S. A. Kurbatov, P. G. Tsygankova, et al. · Neuromuscular Diseases · 4
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Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction
2025 · Igor Bychkov, Elza Shchukina, et al. · Molecular Medicine · 3
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A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH)
2024 · Polina Tsygankova, Denis Chistol, et al. · Genes · 3
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Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI
2023 · Ekaterina Kondrateva, Olga Grigorieva, et al. · Stem Cell Research · 3
Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12
2023 · I.O. Panchuk, O.V. Grigorieva, et al. · Stem Cell Research · 3
Mitochondrial Dna Depletion Syndrome in a Newborn Child
2018 · M.G. Ipatova, Y.S. Itkis, et al. · PEDIATRIA Journal named after G N SPERANSKY · 3
Works count: 47
Citation count: 447
H-index: 10
I10-index: 11
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