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Page 1
Complex Transposon Insertion as a Novel Cause of Pompe Disease.
Bychkov I, Baydakova G, Filatova A, Migiaev O, Marakhonov A, Pechatnikova N, Pomerantseva E, Konovalov F, Ampleeva M, Kaimonov V, Skoblov M, Zakharova E. Bychkov I, et al. Among authors: kaimonov v. Int J Mol Sci. 2021 Oct 8;22(19):10887. doi: 10.3390/ijms221910887. Int J Mol Sci. 2021. PMID: 34639227 Free PMC article.
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.
Robinson HK, Zaklyazminskaya E, Povolotskaya I, Surikova Y, Mallin L, Armstrong C, Mabin D, Benke PJ, Chrisant MR, McDonald M, Marboe CC, Agre KE, Deyle DR, McWalter K, Douglas G, Balashova MS, Kaimonov V, Shirokova N, Pomerantseva E, Turner CL, Ellard S. Robinson HK, et al. Among authors: kaimonov v. Clin Genet. 2020 Oct;98(4):331-340. doi: 10.1111/cge.13812. Epub 2020 Aug 2. Clin Genet. 2020. PMID: 32666529
Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature.
Khoreva A, Pomerantseva E, Belova N, Povolotskaya I, Konovalov F, Kaimonov V, Gavrina A, Zimin S, Pershin D, Davydova N, Burlakov V, Viktorova E, Roppelt A, Kalinina E, Novichkova G, Shcherbina A. Khoreva A, et al. Among authors: kaimonov v. Front Pediatr. 2020 Sep 15;8:577. doi: 10.3389/fped.2020.00577. eCollection 2020. Front Pediatr. 2020. PMID: 33042920 Free PMC article.
Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.
Sparber P, Krylova T, Repina S, Demina N, Rudenskaya G, Sharkova I, Sharkov A, Kadyshev V, Kanivets I, Korostelev S, Pomerantseva E, Kaimonov V, Mikhailova S, Zakharova E, Skoblov M. Sparber P, et al. Among authors: kaimonov v. Parkinsonism Relat Disord. 2021 Mar;84:98-104. doi: 10.1016/j.parkreldis.2021.02.002. Epub 2021 Feb 9. Parkinsonism Relat Disord. 2021. PMID: 33607528
Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan.
Bardakov SN, Deev RV, Isaev АА, Khromov-Borisov NN, Kopylov ED, Savchuk МR, Pushkin MS, Presnyakov EV, Magomedova RM, Achmedova PG, Umakhanova ZR, Kaimonov VS, Musatova EV, Blagodatskikh KА, Tveleneva AА, Sofronova YV, Yakovlev IA. Bardakov SN, et al. Among authors: kaimonov vs. Mol Genet Genomic Med. 2023 Oct;11(10):e2236. doi: 10.1002/mgg3.2236. Epub 2023 Aug 8. Mol Genet Genomic Med. 2023. PMID: 37553796 Free PMC article.
Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7452 exome samples.
Barbitoff YA, Khmelkova DN, Pomerantseva EA, Slepchenkov AV, Zubashenko NA, Mironova IV, Kaimonov VS, Polev DE, Tsay VV, Glotov AS, Aseev MV, Shcherbak SG, Glotov OS, Isaev AA, Predeus AV. Barbitoff YA, et al. Among authors: kaimonov vs. Natl Sci Rev. 2024 Sep 14;11(10):nwae326. doi: 10.1093/nsr/nwae326. eCollection 2024 Oct. Natl Sci Rev. 2024. PMID: 39498263 Free PMC article.