| Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ... Brain 145 (9), 2991-3009, 2022 | 84 | 2022 |
| Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features M Scala, GL Chua, CF Chin, HS Alsaif, A Borovikov, S Riazuddin, ... European Journal of Human Genetics 28 (11), 1509-1519, 2020 | 23 | 2020 |
| GestaltMatcher Database-a FAIR database for medical imaging data of rare disorders H Lesmann, GJ Lyon, P Caro, IM Abdelrazek, S Moosa, JT Pantel, ... MedRxiv, 2023 | 9 | 2023 |
| Genotype-phenotype comparison in POGZ-related neurodevelopmental disorders by using clinical scoring D Nagy, S Verheyen, KM Wigby, A Borovikov, A Sharkov, V Slegesky, ... Genes 13 (1), 154, 2022 | 8 | 2022 |
| EPMA-World Congress 2015: Bonn, Germany. 3-5 September 2015 JA Abraham, O Golubnitschaja, I Akhmetov, RJ Andrews, L Quintana, ... EPMA Journal 7, 1-42, 2016 | 8 | 2016 |
| Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures A Bayat, M Pendziwiat, E Obersztyn, P Goldenberg, P Zacher, JH Döring, ... Frontiers in genetics 12, 663643, 2021 | 7 | 2021 |
| Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene T Markova, P Sparber, A Borovikov, T Nagornova, E Dadali Molecular Genetics & Genomic Medicine 9 (3), e1620, 2021 | 7 | 2021 |
| The first Russian patient with Native American myopathy A Murtazina, N Demina, P Chausova, O Shchagina, A Borovikov, E Dadali Genes 13 (2), 341, 2022 | 5 | 2022 |
| Genetic and clinical spectrum of GNE myopathy in Russia A Murtazina, S Nikitin, G Rudenskaya, I Sharkova, A Borovikov, P Sparber, ... Genes 13 (11), 1991, 2022 | 4 | 2022 |
| SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis A Stefanski, E Pérez-Palma, T Brünger, L Montanucci, C Gati, C Klöckner, ... Brain 146 (12), 5198-5208, 2023 | 2 | 2023 |
| Clinical Genetic Characteristics of Epilepsy Due to Mutations in the PCDH19 Gene (OMIM: 300088) EL Dadali, IA Mishina, AO Borovikov, AA Sharkov, IV Kanivets Neuroscience and Behavioral Physiology 50, 1099-1104, 2020 | 2* | 2020 |
| Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the … AO Borovikov, IV Sharkova, OP Ryzhkova, AL Chukhrova, OA Schagina, ... Neuromuscular Diseases 9 (1), 83-91, 2019 | 2* | 2019 |
| GestaltMatcher Database-A global reference for the facial phenotypic variability of rare human diseases. H Lesmann, A Hustinx, S Moosa, E Marchi, P Caro, IM Abdelrazek, ... Medrxiv: the Preprint Server for Health Sciences, 2023.06. 06.23290887-2023 …, 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 |
| Role of Molecular Genetic Factors in Formation of the Clinical Type of Neurofibromatosis Type 2 KO Karandasheva, ES Makashova, FA Ageeva, KI Anoshkin, PA Sparber, ... Russian Journal of Genetics 60 (2), 210-219, 2024 | | 2024 |
| Analysis of intronic and exonic variants in patients with DEPDC5-related epilepsy and correction of splicing using modified snRNAs E Osipova, I Bychkov, A Filatova, A Borovikov, A Sharkov, S Sharkova, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 195-196, 2024 | | 2024 |
| Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series A Murtazina, A Borovikov, A Marakhonov, A Sharkov, I Sharkova, ... Frontiers in Pediatrics 12, 2024 | | 2024 |
| Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3 A Murtazina, A Borovikov, A Kuchina, O Ovsova, M Bulakh, A Chukhrova, ... International Journal of Molecular Sciences 25 (1), 129, 2023 | | 2023 |
| Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report TA Vasilyeva, AV Marakhonov, IS Tebieva, VV Kadyshev, AO Borovikov, ... International Journal of Molecular Sciences 24 (5), 4515, 2023 | | 2023 |
| Dynamic Tissue-Specific Mosaicism of a ring chromosome NV Shilova, ME Minzhenkova, ZG Markova, AA Tarlycheva, ... Medical Genetics 21 (11), 56-58, 2022 | | 2022 |
