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A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene.
Myasnikov R, Bukaeva A, Kulikova O, Meshkov A, Kiseleva A, Ershova A, Petukhova A, Divashuk M, Zotova E, Sotnikova E, Kharlap M, Zharikova A, Vyatkin Y, Ramensky V, Abisheva A, Muraveva A, Koretskiy S, Kudryavtseva M, Popov S, Utkina M, Mershina E, Sinitsyn V, Kogan E, Blagova O, Drapkina O. Myasnikov R, et al. Among authors: ramensky v. Genes (Basel). 2022 Feb 7;13(2):309. doi: 10.3390/genes13020309. Genes (Basel). 2022. PMID: 35205353 Free PMC article.
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A, Ershova A, Kiseleva A, Zotova E, Sotnikova E, Petukhova A, Zharikova A, Malyshev P, Rozhkova T, Blokhina A, Limonova A, Ramensky V, Divashuk M, Khasanova Z, Bukaeva A, Kurilova O, Skirko O, Pokrovskaya M, Mikova V, Snigir E, Akinshina A, Mitrofanov S, Kashtanova D, Makarov V, Kukharchuk V, Boytsov S, Yudin S, Drapkina O. Meshkov A, et al. Among authors: ramensky v. Genes (Basel). 2021 Jan 6;12(1):66. doi: 10.3390/genes12010066. Genes (Basel). 2021. PMID: 33418990 Free PMC article.
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE, Ershova AI, Zaicenoka M, Kiseleva AV, Zharikova AA, Vyatkin YV, Sotnikova EA, Efimova IA, Divashuk MG, Kurilova OV, Skirko OP, Muromtseva GA, Belova OA, Rachkova SA, Pokrovskaya MS, Shalnova SA, Meshkov AN, Drapkina OM. Ramensky VE, et al. Front Genet. 2021 Oct 7;12:709419. doi: 10.3389/fgene.2021.709419. eCollection 2021. Front Genet. 2021. PMID: 34691145 Free PMC article.
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Sotnikova EA, Kiseleva AV, Kutsenko VA, Zharikova AA, Ramensky VE, Divashuk MG, Vyatkin YV, Klimushina MV, Ershova AI, Revazyan KZ, Skirko OP, Zaicenoka M, Efimova IA, Pokrovskaya MS, Kopylova OV, Glechan AM, Shalnova SA, Meshkov AN, Drapkina OM. Sotnikova EA, et al. Among authors: ramensky ve. J Pers Med. 2022 Jul 12;12(7):1132. doi: 10.3390/jpm12071132. J Pers Med. 2022. PMID: 35887629 Free PMC article.
Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates.
Sul JH, Service SK, Huang AY, Ramensky V, Hwang SG, Teshiba TM, Park Y, Ori APS, Zhang Z, Mullins N, Olde Loohuis LM, Fears SC, Araya C, Araya X, Spesny M, Bejarano J, Ramirez M, Castrillón G, Gomez-Makhinson J, Lopez MC, Montoya G, Montoya CP, Aldana I, Escobar JI, Ospina-Duque J, Kremeyer B, Bedoya G, Ruiz-Linares A, Cantor RM, Molina J, Coppola G, Ophoff RA, Macaya G, Lopez-Jaramillo C, Reus V, Bearden CE, Sabatti C, Freimer NB. Sul JH, et al. Among authors: ramensky v. Transl Psychiatry. 2020 Feb 24;10(1):74. doi: 10.1038/s41398-020-0758-1. Transl Psychiatry. 2020. PMID: 32094344 Free PMC article.
Positive selection in alternatively spliced exons of human genes.
Ramensky VE, Nurtdinov RN, Neverov AD, Mironov AA, Gelfand MS. Ramensky VE, et al. Am J Hum Genet. 2008 Jul;83(1):94-8. doi: 10.1016/j.ajhg.2008.05.017. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18571144 Free PMC article.
44 results