| 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 |
| Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene M Sharova, M Skoblov, E Dadali, N Demina, O Shchagina, F Konovalov, ... Frontiers in Neurology 13, 1008937, 2022 | 2 | 2022 |
| CHEK2 I157T-Pluto Among Numerous Low-Risk Genetic Factors Requiring Discharge From a Range of Pathogenic Variants? M Ivanov, M Sharova, A Olsen, A Lebedeva, E Ignatova, G Mouse, ... Journal of the National Comprehensive Cancer Network 20 (2), xxv-xxv, 2022 | 2 | 2022 |
| Incidental germline findings during molecular profiling of tumor tissues for precision oncology: molecular survey and methodological obstacles A Lebedeva, Y Shaykhutdinova, D Seriak, E Ignatova, E Rozhavskaya, ... Journal of Translational Medicine 20 (1), 29, 2022 | 2 | 2022 |
| Impact of the STK11/KRAS co-mutation on the response to immunotherapy in a real-world pan-cancer cohort A Olsen, A Lebedeva, P Nosova, V Nikulin, M Sharova, E Ignatova, ... Tumori Journal 110 (2), 146-152, 2024 | 1 | 2024 |
| Rare IFT140-associated phenotype of cranioectodermal dysplasia and features of diagnostic journey in patients with suspected ciliopathies M Sharova, T Markova, M Sumina, M Petukhova, M Bulakh, O Ryzhkova, ... Genes 14 (8), 1553, 2023 | 1 | 2023 |
| Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing P Sparber, M Sharova, K Davydenko, D Pyankov, A Filatova, M Skoblov Brain 147 (4), 1278-1293, 2024 | | 2024 |
| The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study A Borovikov, N Galeeva, A Marakhonov, A Murtazina, V Kadnikova, ... Human Mutation 2024, 2024 | | 2024 |
| Utility of public knowledge bases for the interpretation of comprehensive tumor molecular profiling results A Lebedeva, G Timokhin, E Ignatova, A Kavun, E Veselovsky, M Sharova, ... Clinical and Experimental Medicine 23 (6), 2663-2674, 2023 | | 2023 |
| THE IMPORTANCE OF REANALYSIS OF NGS DATA AND FURTHER FUNCTIONAL ANALYSIS ON THE EXAMPLE OF 5 PATIENTS WITH A CLINICALLY DIAGNOSED HYPOPHOSPHATEMIC RICKET. M Sharova, S Papizh, O Levchenko, A Filatova, A Marakhonov, ... PEDIATRIC NEPHROLOGY 37 (11), 2863-2863, 2022 | | 2022 |
| PHENOTYPE COMPARATIVE ANALYSIS IN CHILDREN WITH LOSS-OF-FUNCTION SODIUM-PHOSPHATE TRANSPORTERS NAPI-IIA AND NAPI-IIC S Papizh, L Prikhodina, M Sharova, M Skoblov PEDIATRIC NEPHROLOGY 37 (11), 2918-2918, 2022 | | 2022 |
| Functional analysis of SCN1A non-canonical splice-site variants reveals high rate of false-positive causative variants P Sparber, M Sharova, K Davidenko, A Filatova, M Skoblov EPILEPSIA 63, 51-51, 2022 | | 2022 |
| Full gene-splicing assay of coding and non-coding variants in the SCN1A gene P Sparber, M Sharova, K Davidenko, A Filatova, M Skoblov EUROPEAN JOURNAL OF NEUROLOGY 29, 656-656, 2022 | | 2022 |
| Importance of critical evaluation of genomic findings reported following comprehensive tumor molecular profiling (CTMP) for discussion within molecular tumor boards (MTB). A Lebedeva, M Ivanov, O Kuznetsova, M Sharova, E Ignatova, A Tryakin, ... Journal of Clinical Oncology 40 (16_suppl), e18623-e18623, 2022 | | 2022 |
| Utility of public Knowledge Bases (KB) for comprehensive tumor molecular profiling (CTMP) result interpretation. A Lebedeva, M Ivanov, E Ignatova, G Timokhin, M Sharova, V Mileyko, ... Journal of Clinical Oncology 40 (16_suppl), e15119-e15119, 2022 | | 2022 |
| Developing expression system for evaluation of SCN1A splicing alterations P Sparber, K Davidenko, M Sharova, A Filatova, M Skoblov EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 298-298, 2022 | | 2022 |
| The importance of NGS data reanalysis and further functional analysis: an example of impaired phosphate metabolism M Sharova, S Papizh, O Levchenko, A Filatova, A Marakhonov, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 151-152, 2022 | | 2022 |
| Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene M Sharova, D Guseva, A Kurenkov, O Novoselova, A Murtazina, ... American Journal of Medical Genetics Part A, 2022 | | 2022 |
| 13P Incidental germline findings from tumor molecular profiling for precision oncology: Is it common and how to manage? M Ivanov, A Lebedeva, D Seriak, E Rozhavskaya, M Sharova, D Vardhan, ... Annals of Oncology 32, S1349-S1350, 2021 | | 2021 |
| Clinical application of routine comprehensive tumour molecular profiling in the management of cancer patients V Mileyko, E Veselovsky, E Rozhavskaya, E Ignatova, A Kovtun, ... Annals of Oncology 30, vii29, 2019 | | 2019 |
