| Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy SL Stenton, NL Sheremet, CB Catarino, NA Andreeva, Z Assouline, ... The Journal of clinical investigation 131 (6), 2021 | 106 | 2021 |
| Plasma FGF‐21 and GDF‐15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders PG Tsygankova, YS Itkis, TD Krylova, MV Kurkina, IO Bychkov, ... Journal of Inherited Metabolic Disease 42 (5), 918-933, 2019 | 35 | 2019 |
| α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females GV Baydakova, AA Ilyushkina, S Moiseev, IO Bychkov, NV Nikitina, ... Clinica Chimica Acta 501, 27-32, 2020 | 29 | 2020 |
| Elevated LysoGb3 concentration in the neuronopathic forms of mucopolysaccharidoses G Baydakova, A Ilyushkina, L Gaffke, K Pierzynowska, I Bychkov, ... Diagnostics 10 (3), 155, 2020 | 11 | 2020 |
| Complex transposon insertion as a novel cause of pompe disease I Bychkov, G Baydakova, A Filatova, O Migiaev, A Marakhonov, ... International journal of molecular sciences 22 (19), 10887, 2021 | 10 | 2021 |
| Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes IO Bychkov, YS Itkis, PG Tsygankova, TD Krylova, SV Mikhaylova, ... Mitochondrion 57, 205-212, 2021 | 9 | 2021 |
| The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency IO Bychkov, EA Kamenets, AY Filatova, MY Skoblov, SV Mikhaylova, ... Molecular Genetics and Metabolism 127 (3), 212-215, 2019 | 8 | 2019 |
| POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults E Nuzhnyi, Y Seliverstov, S Klyushnikov, T Krylova, P Tsygankova, ... Clinical Neurology and Neurosurgery 201, 106462, 2021 | 6 | 2021 |
| A family case of congenital myasthenic syndrome-22 induced by different combinations of molecular causes in siblings O Shchagina, L Bessonova, I Bychkov, T Beskorovainaya, A Poliakov Genes 11 (7), 821, 2020 | 6 | 2020 |
| Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C I Bychkov, A Filatova, G Perelman, T Proshlyakova, D Korotkova, ... European Journal of Human Genetics 30 (1), 133-136, 2022 | 5 | 2022 |
| Leigh Syndrome: spectrum of molecular defects and clinical features in Russia D Kistol, P Tsygankova, T Krylova, I Bychkov, Y Itkis, E Nikolaeva, ... International Journal of Molecular Sciences 24 (2), 1597, 2023 | 4 | 2023 |
| Alkaptonuria in Russia: mutational spectrum and novel variants I Bychkov, E Kamenets, M Kurkina, G Rychkov, A Ilyushkina, A Filatova, ... European Journal of Medical Genetics 64 (4), 104165, 2021 | 4 | 2021 |
| The unique Spectrum of mutations in patients with hereditary tyrosinemia type 1 in different regions of The Russian Federation GV Baydakova, TA Ivanova, SV Mikhaylova, DK Saydaeva, ... JIMD Reports, Volume 45, 89-93, 2019 | 4 | 2019 |
| Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion P Sparber, I Bychkov, D Pyankov, M Skoblov Human Genetics 142 (8), 1043-1053, 2023 | 3 | 2023 |
| Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape I Bychkov, A Kuznetsova, G Baydakova, L Gorobets, V Kenis, A Dimitrieva, ... NPJ genomic medicine 7 (1), 44, 2022 | 3 | 2022 |
| Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing I Bychkov, A Galushkin, A Filatova, A Nekrasov, M Kurkina, G Baydakova, ... International Journal of Molecular Sciences 22 (8), 4154, 2021 | 3 | 2021 |
| Clinical case of mitochondrial DNA depletion AV Degtyareva, EV Stepanova, YS Itkis, EI Dorofeeva, MV Narogan, ... Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of …, 2017 | 3 | 2017 |
| Peculiarities of the spectrum of mutations in hereditary tyrosinemia type I in various populations of the Russian Federation GV Baydakova, TA Ivanova, GM Radzhabova, DK Saydaeva, ... Medical Genetics 16 (6), 43-47, 2017 | 3 | 2017 |
| Overlapping phenotype of adult-onset ALPK3-cardiomyopathy in the setting of two novel variants OS Chumakova, NV Milovanova, IO Bychkov, EY Zakharova, ... Cardiology Research 13 (6), 398, 2022 | 2 | 2022 |
| Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12 IO Panchuk, OV Grigorieva, EV Kondrateva, EV Kurshakova, VY Tabakov, ... Stem Cell Research 71, 103183, 2023 | 1 | 2023 |
Mikle SkoblovResearch Centre for Medical GeneticsVerified email at generesearch.ru
