| Phenome-wide functional dissection of pleiotropic effects highlights key molecular pathways for human complex traits AE Shikov, RK Skitchenko, AV Predeus, YA Barbitoff Scientific reports 10 (1), 1037, 2020 | 37 | 2020 |
| Whole-exome sequencing in Russian children with non-type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY-related and unrelated genes OS Glotov, EA Serebryakova, ME Turkunova, OA Efimova, AS Glotov, ... Molecular medicine reports 20 (6), 4905-4914, 2019 | 37 | 2019 |
| Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia YA Barbitoff, RK Skitchenko, OI Poleshchuk, AE Shikov, EA Serebryakova, ... Molecular Genetics & Genomic Medicine 7 (11), e964, 2019 | 35 | 2019 |
| Census of halide-binding sites in protein structures RK Skitchenko, D Usoltsev, M Uspenskaya, AV Kajava, A Guskov Bioinformatics 36 (10), 3064-3071, 2020 | 27 | 2020 |
| No More Tears: Mining Sequencing Data for Novel Bt Cry Toxins with CryProcessor AE Shikov, YV Malovichko, RK Skitchenko, AA Nizhnikov, KS Antonets Toxins 12 (3), 204, 2020 | 22 | 2020 |
| Estimation of amyloid aggregate sizes with semi-denaturing detergent agarose gel electrophoresis and its limitations PB Drozdova, YA Barbitoff, MV Belousov, RK Skitchenko, TM Rogoza, ... Prion 14 (1), 118-128, 2020 | 14 | 2020 |
| Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5′ UTRs A Filatova, I Reveguk, M Piatkova, D Bessonova, O Kuziakova, ... Nucleic Acids Research 51 (3), 1229-1244, 2023 | 7 | 2023 |
| A 300-kb microduplication of 7q36. 3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report A Zlotina, O Melnik, Y Fomicheva, R Skitchenko, A Sergushichev, ... BMC Medical Genomics 13, 1-9, 2020 | 7 | 2020 |
| Complex trait susceptibilities and population diversity in a sample of 4,145 Russians D Usoltsev, N Kolosov, O Rotar, A Loboda, M Boyarinova, E Moguchaya, ... Nature communications 15 (1), 6212, 2024 | 5 | 2024 |
| Understanding complex trait susceptibilities and ethnical diversity in a sample of 4,145 Russians through analysis of clinical and genetic data D Usoltsev, N Kolosov, O Rotar, A Loboda, M Boyarinova, E Moguchaya, ... bioRxiv, 2023.03. 23.534000, 2023 | 3 | 2023 |
| Case report: Somatic mutations in microtubule dynamics-associated genes in patients with WNT-medulloblastoma tumors R Skitchenko, Y Dinikina, S Smirnov, M Krapivin, A Smirnova, ... Frontiers in Oncology 12, 1085947, 2023 | 2 | 2023 |
| Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis A Zlotina, S Barashkova, S Zhuk, R Skitchenko, D Usoltsev, ... Orphanet Journal of Rare Diseases 19 (1), 310, 2024 | 1 | 2024 |
| The Role of NOTCH Pathway Genes in the Inherited Susceptibility to Aortic Stenosis O Irtyuga, R Skitchenko, M Babakekhyan, D Usoltsev, S Tarnovskaya, ... Journal of Cardiovascular Development and Disease 11 (7), 226, 2024 | 1 | 2024 |
| Harnessing population-specific protein truncating variants to improve the annotation of loss-of-function alleles RK Skitchenko, JS Kornienko, EM Maksiutenko, AS Glotov, AV Predeus, ... bioRxiv, 2020.08. 17.254904, 2020 | 1 | 2020 |
| Case report: A case study of variant calling pipeline selection effect on the molecular diagnostics outcome R Skitchenko, S Smirnov, M Krapivin, A Smirnova, M Artomov, A Loboda, ... Frontiers in Oncology 14, 1422811, 2024 | | 2024 |
| Whole-exome sequencing reveals an association of rs112065068 in TGOLN2 gene with distant metastasis of non-small cell lung cancer T Gerashchenko, R Skitchenko, A Korobeynikova, K Kuanysheva, ... Gene 920, 148507, 2024 | | 2024 |
| OPEN ACCESS EDITED BY L Quaglietta, P De Antonellis, D Roberti, M Artomov, R Skitchenko, ... 2021 WHO Classification of Pediatric Brain Tumors: A Final Wedding Between …, 2024 | | 2024 |
| The Effect of Pathogenic Tumor Suppressor Gene Variants on COVID-19: A Report of Three Cases with Varied Severity and Outcomes RK Skitchenko, YA Barbitoff, MA Fedyakov, AY Anisenkova, SV Mosenko, ... | | 2023 |
| CR1 variants contribute to FSGS susceptibility across multiple populations R Skitchenko, Z Modrusan, A Loboda, JB Kopp, CA Winkler, ... Medrxiv, 2023 | | 2023 |
| Manually curated annotation of uORFs in the OMIM genes reveals pathogenic variants in 5'UTRs A Filatova, I Reveguk, M Piatkova, D Bessonova, O Kuziakova, ... EUROPEAN JOURNAL OF HUMAN GENETICS 31, 74-74, 2023 | | 2023 |