Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 755 | 2021 |
Genetic structure of the Amur tiger (Panthera tigris altaica) population: Are tigers in Sikhote‐Alin and southwest Primorye truly isolated? PA Sorokin, VV Rozhnov, AU Krasnenko, VS Lukarevskiy, SV Naidenko, ... Integrative Zoology 11 (1), 25-32, 2016 | 35 | 2016 |
Molecular genetic analysis of human endometrial mesenchymal stem cells that survived sublethal heat shock AE Vinogradov, MA Shilina, OV Anatskaya, LL Alekseenko, ... Stem Cells International 2017, 2017 | 16 | 2017 |
A second update on mapping the human genetic architecture of COVID-19 M Kanai, SJ Andrews, M Cordioli, C Stevens, BM Neale, M Daly, A Ganna, ... Nature 621 (7977), E7-E26, 2023 | 15 | 2023 |
Apremilast pharmacogenomics in Russian patients with moderate-to-severe and severe psoriasis DA Verbenko, AE Karamova, OG Artamonova, DG Deryabin, A Rakitko, ... Journal of Personalized Medicine 11 (1), 20, 2020 | 14 | 2020 |
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers AA Kozina, EG Okuneva, NV Baryshnikova, OB Kondakova, EA Nikolaeva, ... Molecular Genetics & Genomic Medicine 8 (7), e1228, 2020 | 14 | 2020 |
Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report AA Kozina, TA Trofimova, EG Okuneva, NV Baryshnikova, VA Obuhova, ... BMC nephrology 20, 1-7, 2019 | 14 | 2019 |
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report KO Borisovna, KA Yurievna, TK Yurievich, KO Igorevna, KD Olegovich, ... BMC pediatrics 19, 1-8, 2019 | 13 | 2019 |
A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report AA Kozina, EG Okuneva, NV Baryshnikova, AY Krasnenko, KY Tsukanov, ... BMC Medical Genetics 19, 1-6, 2018 | 12 | 2018 |
A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report EG Okuneva, AA Kozina, NV Baryshnikova, AY Krasnenko, KY Tsukanov, ... BMC dermatology 19, 1-5, 2019 | 8 | 2019 |
Induction of premature cell senescence stimulated by high doses of antioxidants is mediated by endoplasmic reticulum stress O Lyublinskaya, J Kornienko, J Ivanova, N Pugovkina, L Alekseenko, ... International Journal of Molecular Sciences 22 (21), 11851, 2021 | 7 | 2021 |
Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report AA Kozina, EG Okuneva, NV Baryshnikova, ID Fedonyuk, AA Kholin, ... BMC Medical Genetics 21, 1-7, 2020 | 6 | 2020 |
Effect of DNA insert length on whole-exome sequencing enrichment efficiency: an observational study A Krasnenko, K Tsukanov, I Stetsenko, O Klimchuk, N Plotnikov, ... Advances in Genomics and Genetics, 13-15, 2018 | 6 | 2018 |
A bioinformatic pipeline for NGS data analysis and mutation calling in human solid tumors KY Tsukanov, AY Krasnenko, DA Plakhina, DO Korostin, AV Churov, ... Biomeditsinskaya khimiya 63 (5), 413-417, 2017 | 6 | 2017 |
GWAS of depression in 4,520 individuals from the Russian population highlights the role of MAGI2 (S-SCAM) in the gut-brain axis D Pinakhina, D Yermakovich, E Vergasova, E Kasyanov, ... Frontiers in Genetics 13, 972196, 2023 | 4 | 2023 |
Clinical and molecular-genetic profiles of patients with morphological indications of congenital multicore myopathy AA Kozina, PA Shatalov, TI Baranich, SB Artemieva, AG Kupriyanova, ... Bulletin of Russian State Medical University, 15-21, 2019 | 2 | 2019 |
A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene AA Kozina, GK Kanaeva, NV Baryshnikova, AY Ilinskaya, AA Kim, ... Journal of International Medical Research 51 (10), 03000605231206294, 2023 | 1 | 2023 |
Lactase Deficiency in Russia: Multiethnic Genetic Study E Kovalenko, E Vergasova, O Shoshina, I Popov, A Ilinskaya, A Kim, ... | 1 | 2022 |
The utility of exome sequencing in diagnosis of hereditary diseases EG Okuneva, AA Kozina, NV Baryshnikova, AY Krasnenko, OI Klimchuk, ... Medical Genetics 19 (12), 18-24, 2020 | 1 | 2020 |
Whole exome sequencing identifies a novel ATM mutation resulting ataxia-teleangiectasia A Kozina, I Fedonyuk, D Borisevich, P Schatalov, E Okuneva, D Korostin, ... European Journal of Human Genetics 26, 906-907, 2018 | 1 | 2018 |