| The role of long non-coding RNAs in the pathogenesis of hereditary diseases P Sparber, A Filatova, M Khantemirova, M Skoblov BMC medical genomics 12, 63-78, 2019 | 60 | 2019 |
| Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay AY Filatova, TA Vasilyeva, AV Marakhonov, AA Voskresenskaya, ... European Journal of Human Genetics 27 (3), 488-493, 2019 | 38 | 2019 |
| Upstream ORF frameshift variants in the PAX6 5ʹUTR cause congenital aniridia AY Filatova, TA Vasilyeva, AV Marakhonov, NV Sukhanova, ... Human Mutation 42 (8), 1053-1065, 2021 | 12 | 2021 |
| Health Characteristics of Patients with Cystic Fibrosis Whose Genotype Includes a Variant of the Nucleotide Sequence c. 3140-16T> A and Functional Analysis of This Variant E Kondratyeva, T Bukharova, A Efremova, Y Melyanovskaya, N Bulatenko, ... Genes 12 (6), 837, 2021 | 12 | 2021 |
| Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome P Sparber, A Filatova, I Anisimova, T Markova, V Voinova, A Chuhrova, ... European Journal of Medical Genetics 63 (12), 104088, 2020 | 11 | 2020 |
| LINC01420 RNA structure and influence on cell physiology DO Konina, AY Filatova, MY Skoblov Bmc Genomics 20, 1-7, 2019 | 11 | 2019 |
| 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 |
| 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 |
| Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing P Sparber, A Marakhonov, A Filatova, I Sharkova, M Skoblov neurogenetics 19 (4), 257-260, 2018 | 7 | 2018 |
| Analysis of candidate genes expected to be essential for melanoma surviving IA Krivosheeva, AY Filatova, SA Moshkovskii, AV Baranova, MY Skoblov Cancer Cell International 20, 1-8, 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 |
| Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia AV Marakhonov, M Přechová, FA Konovalov, AY Filatova, MA Zamkova, ... Clinical Genetics 99 (5), 673-683, 2021 | 5 | 2021 |
| Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report P Sparber, M Sharova, A Filatova, O Shchagina, E Ivanova, E Dadali, ... BMC Medical Genetics 21, 1-5, 2020 | 5 | 2020 |
| Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome A Filatova, M Freire Chadrina, E Lozier, F Konovalov, L Bessonova, ... Clinical Genetics 95 (3), 2018 | 5 | 2018 |
| siRNA-mediated gene silencing JV Vyakhireva, AY Filatova, IA Krivosheeva, MY Skoblov Bulletin of Russian State Medical University, 17-29, 2017 | 5 | 2017 |
| 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 |
| CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report S Papizh, V Serzhanova, A Filatova, M Skoblov, V Tabakov, ... BMC nephrology 20, 1-6, 2019 | 4 | 2019 |
| Splice‐site variant in the RPS7 5′‐UTR leads to a decrease in the mRNA level and development of Diamond‐Blackfan anemia LO Skorodumova, KA Davydenko, AY Filatova, MY Skoblov, NA Kulemin, ... Clinical Genetics 103 (1), 93-96, 2023 | 3 | 2023 |
| A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA I Viakhireva, N Kalinchenko, E Vasilyev, GV Chistousova, A Filatova, ... The Journal of Clinical Endocrinology & Metabolism 107 (9), e3654-e3660, 2022 | 3 | 2022 |
| 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 |
Mikle SkoblovResearch Centre for Medical GeneticsVerified email at generesearch.ru
