| Protein partners of KCTD proteins provide insights about their functional roles in cell differentiation and vertebrate development M Skoblov, A Marakhonov, E Marakasova, A Guskova, V Chandhoke, ... Bioessays 35 (7), 586-596, 2013 | 105 | 2013 |
| Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations TA Vasilyeva, AA Voskresenskaya, B Käsmann‐Kellner, OV Khlebnikova, ... Clinical genetics 92 (6), 639-644, 2017 | 56 | 2017 |
| 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 | 43 | 2019 |
| Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (DES) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament … AV Marakhonov, A Brodehl, RP Myasnikov, PA Sparber, AV Kiseleva, ... Human mutation 40 (6), 734-741, 2019 | 37 | 2019 |
| Pro-apoptotic and antiproliferative activity of human KCNRG, a putative tumor suppressor in 13q14 region A Birerdinc, E Nohelty, A Marakhonov, G Manyam, I Panov, S Coon, ... Tumor Biology 31, 33-45, 2010 | 36 | 2010 |
| Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients NV Petrova, NY Kashirskaya, TA Vasilyeva, EI Kondratyeva, EK Zhekaite, ... Genes 11 (5), 554, 2020 | 35 | 2020 |
| Analysis of genotype–phenotype correlations in PAX6-associated aniridia TA Vasilyeva, AV Marakhonov, AA Voskresenskaya, VV Kadyshev, ... Journal of Medical Genetics 58 (4), 270-274, 2021 | 32 | 2021 |
| Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation N Petrova, N Balinova, A Marakhonov, T Vasilyeva, N Kashirskaya, ... Frontiers in genetics 12, 678374, 2021 | 30 | 2021 |
| Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles NV Zernov, MY Skoblov, AV Marakhonov, Y Shimomura, TA Vasilyeva, ... Journal of Investigative Dermatology 136 (6), 1097-1105, 2016 | 29 | 2016 |
| Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic RA Zinchenko, AK Makaov, AV Marakhonov, VA Galkina, VV Kadyshev, ... International Journal of Molecular Sciences 21 (1), 325, 2020 | 27 | 2020 |
| Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum AV Marakhonov, VY Tabakov, NV Zernov, EL Dadali, IV Sharkova, ... Gene 672, 165-171, 2018 | 21 | 2018 |
| Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K … NV Petrova, NY Kashirskaya, DK Saydaeva, AV Polyakov, TA Adyan, ... BMC medical genetics 20, 1-7, 2019 | 20 | 2019 |
| LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome AV Marakhonov, TA Vasilyeva, AA Voskresenskaya, NV Sukhanova, ... Human molecular genetics 28 (19), 3323-3326, 2019 | 20 | 2019 |
| Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders AV Marakhonov, FA Konovalov, AK Makaov, TA Vasilyeva, VV Kadyshev, ... BMC Medical Genomics 11, 91-95, 2018 | 19 | 2018 |
| Clouston syndrome: first case in Russia AV Marakhonov, MY Skoblov, VA Galkina, RA Zinchenko Balkan Journal of Medical Genetics: BJMG 15 (1), 51, 2012 | 19 | 2012 |
| Ataxia with oculomotor apraxia type 4 with PNKP common “Portuguese” and novel mutations in two belarusian families GE Rudenskaya, AV Marakhonov, OA Shchagina, ER Lozier, EL Dadali, ... Journal of Pediatric Genetics 8 (02), 058-062, 2019 | 18 | 2019 |
| Дифференциальная диагностика наследственных форм врожденной аниридии с позиций современной генетики ТА Васильева, АА Воскресенская, ОВ Хлебникова, НА Поздеева, ... Вестник Российской академии медицинских наук 72 (4), 233-241, 2017 | 18* | 2017 |
| Therapeutic siRNAs and nonviral systems for their delivery KV Glebova, AV Marakhonov, AV Baranova, MY Skoblov Molecular Biology 46, 335-348, 2012 | 18* | 2012 |
| Epidemiology of rare hereditary diseases in the european part of russia: Point and cumulative prevalence RA Zinchenko, EK Ginter, AV Marakhonov, NV Petrova, VV Kadyshev, ... Frontiers in genetics 12, 678957, 2021 | 16 | 2021 |
| ASSA: Fast identification of statistically significant interactions between long RNAs I Antonov, A Marakhonov, M Zamkova, Y Medvedeva Journal of bioinformatics and computational biology 16 (01), 1840001, 2018 | 15 | 2018 |
Mikle SkoblovResearch Centre for Medical GeneticsVerifisert e-postadresse på generesearch.ru
