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Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Published in:
Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1132, doi. 10.3390/jpm12071132
By:
- Sotnikova, Evgeniia A.;
- Kiseleva, Anna V.;
- Kutsenko, Vladimir A.;
- Zharikova, Anastasia A.;
- Ramensky, Vasily E.;
- Divashuk, Mikhail G.;
- Vyatkin, Yuri V.;
- Klimushina, Marina V.;
- Ershova, Alexandra I.;
- Revazyan, Karina Z.;
- Skirko, Olga P.;
- Zaicenoka, Marija;
- Efimova, Irina A.;
- Pokrovskaya, Maria S.;
- Kopylova, Oksana V.;
- Glechan, Anush M.;
- Shalnova, Svetlana A.;
- Meshkov, Alexey N.;
- Drapkina, Oxana M.
Publication type:
Article
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Published in:
Journal of Personalized Medicine, 2020, v. 10, n. 3, p. 140, doi. 10.3390/jpm10030140
By:
- Kiseleva, Anna V.;
- Klimushina, Marina V.;
- Sotnikova, Evgeniia A.;
- Divashuk, Mikhail G.;
- Ershova, Alexandra I.;
- Skirko, Olga P.;
- Kurilova, Olga V.;
- Zharikova, Anastasia A.;
- Khlebus, Eleonora Yu.;
- Efimova, Irina A.;
- Pokrovskaya, Maria S.;
- Slominsky, Petr A.;
- Shalnova, Svetlana A.;
- Meshkov, Alexey N.;
- Drapkina, Oxana M.
Publication type:
Article
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.709419
By:
- Ramensky, Vasily E.;
- Ershova, Alexandra I.;
- Zaicenoka, Marija;
- Kiseleva, Anna V.;
- Zharikova, Anastasia A.;
- Vyatkin, Yuri V.;
- Sotnikova, Evgeniia A.;
- Efimova, Irina A.;
- Divashuk, Mikhail G.;
- Kurilova, Olga V.;
- Skirko, Olga P.;
- Muromtseva, Galina A.;
- Belova, Olga A.;
- Rachkova, Svetlana A.;
- Pokrovskaya, Maria S.;
- Shalnova, Svetlana A.;
- Meshkov, Alexey N.;
- Drapkina, Oxana M.
Publication type:
Article
The Double Mutation DSG2 -p.S363X and TBX20 -p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 6775, doi. 10.3390/ijms22136775
By:
- Myasnikov, Roman;
- Brodehl, Andreas;
- Meshkov, Alexey;
- Kulikova, Olga;
- Kiseleva, Anna;
- Pohl, Greta Marie;
- Sotnikova, Evgeniia;
- Divashuk, Mikhail;
- Klimushina, Marina;
- Zharikova, Anastasia;
- Pokrovskaya, Maria;
- Koretskiy, Sergey;
- Kharlap, Maria;
- Mershina, Elena;
- Sinitsyn, Valentin;
- Basargina, Elena;
- Gandaeva, Leila;
- Barskiy, Vladimir;
- Boytsov, Sergey;
- Milting, Hendrik
Publication type:
Article
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3786, doi. 10.3390/ijms22073786
By:
- Brodehl, Andreas;
- Meshkov, Alexey;
- Myasnikov, Roman;
- Kiseleva, Anna;
- Kulikova, Olga;
- Klauke, Bärbel;
- Sotnikova, Evgeniia;
- Stanasiuk, Caroline;
- Divashuk, Mikhail;
- Pohl, Greta Marie;
- Kudryavtseva, Maria;
- Klingel, Karin;
- Gerull, Brenda;
- Zharikova, Anastasia;
- Gummert, Jan;
- Koretskiy, Sergey;
- Schubert, Stephan;
- Mershina, Elena;
- Gärtner, Anna;
- Pilus, Polina
Publication type:
Article
Plastome Data of Red Currant and Gooseberry Reveal Potential Taxonomical Issues within the Ribes Genus (Grossulariaceae).
Published in:
Horticulturae, 2023, v. 9, n. 9, p. 972, doi. 10.3390/horticulturae9090972
By:
- Pikunova, Anna;
- Goryunova, Svetlana;
- Golyaeva, Olga;
- Dolzhikova, Maria;
- Pavlenko, Anna;
- Kurashev, Oleg;
- Sotnikova, Evgeniia;
- Polivanova, Oksana;
- Sivolapova, Anastasia;
- Kazakov, Oleg;
- Goryunov, Denis
Publication type:
Article
Cystic Fibrosis Polymorphic Variants in a Russian Population.
Published in:
Pharmacogenomics & Personalized Medicine, 2020, v. 13, p. 679, doi. 10.2147/PGPM.S278806
By:
- Kiseleva, Anna;
- Klimushina, Marina;
- Sotnikova, Evgeniia;
- Skirko, Olga;
- Divashuk, Mikhail;
- Kurilova, Olga;
- Ershova, Alexandra;
- Khlebus, Eleonora;
- Zharikova, Anastasia;
- Efimova, Irina;
- Pokrovskaya, Maria;
- Slominsky, Petr A;
- Shalnova, Svetlana;
- Meshkov, Alexey;
- Drapkina, Oxana
Publication type:
Article
Association Mapping of Fertility Restorer Gene for CMS PET1 in Sunflower.
Published in:
Agronomy, 2019, v. 9, n. 2, p. 49, doi. 10.3390/agronomy9020049
By:
- Goryunov, Denis V.;
- Anisimova, Irina N.;
- Gavrilova, Vera A.;
- Chernova, Alina I.;
- Sotnikova, Evgeniia A.;
- Martynova, Elena U.;
- Boldyrev, Stepan V.;
- Ayupova, Asiya F.;
- Gubaev, Rim F.;
- Mazin, Pavel V.;
- Gurchenko, Elena A.;
- Shumskiy, Artemy A.;
- Petrova, Daria A.;
- Garkusha, Sergey V.;
- Mukhina, Zhanna M.;
- Benko, Nikolai I.;
- Demurin, Yakov N.;
- Khaitovich, Philipp E.;
- Goryunova, Svetlana V.
Publication type:
Article
The Mitochondrial Genome of Nematodontous Moss Polytrichum commune and Analysis of Intergenic Repeats Distribution Among Bryophyta.
Published in:
Diversity (14242818), 2021, v. 13, n. 2, p. 54, doi. 10.3390/d13020054
By:
- Goryunov, Denis V.;
- Sotnikova, Evgeniia A.;
- Goryunova, Svetlana V.;
- Kuznetsova, Oxana I.;
- Logacheva, Maria D.;
- Milyutina, Irina A.;
- Fedorova, Alina V.;
- Fedosov, Vladimir E.;
- Troitsky, Aleksey V.;
- Sawicki, Jakub;
- Buffetaut, Eric
Publication type:
Article
Refinement of Rf1-gene localization and development of the new molecular markers for fertility restoration in sunflower.
Published in:
Molecular Biology Reports, 2023, v. 50, n. 9, p. 7919, doi. 10.1007/s11033-023-08646-4
By:
- Sivolapova, Anastasia B.;
- Polivanova, Oksana B.;
- Goryunov, Denis V.;
- Chebanova, Yulia V.;
- Fedorova, Alina V.;
- Sotnikova, Evgeniia A.;
- Karabitsina, Yulia I.;
- Benko, Nikolai I.;
- Mukhina, Zhanna M.;
- Anisimova, Irina N.;
- Demurin, Yakov N.;
- Goryunova, Svetlana V.
Publication type:
Article
Comparative Study of Plastomes in Solanum tuberosum with Different Cytoplasm Types.
Published in:
Plants (2223-7747), 2023, v. 12, n. 23, p. 3995, doi. 10.3390/plants12233995
By:
- Goryunova, Svetlana;
- Sivolapova, Anastasia;
- Polivanova, Oksana;
- Sotnikova, Evgeniia;
- Meleshin, Alexey;
- Gaitova, Natalia;
- Egorova, Anna;
- Semenov, Anatoly;
- Gins, Ekaterina;
- Koroleva, Alina;
- Moskalev, Evgeny;
- Oves, Elena;
- Kazakov, Oleg;
- Troitsky, Aleksey;
- Goryunov, Denis
Publication type:
Article
A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy.
Published in:
Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101750
By:
- Myasnikov, Roman P.;
- Kulikova, Olga V.;
- Meshkov, Alexey N.;
- Bukaeva, Anna A.;
- Kiseleva, Anna V.;
- Ershova, Alexandra I.;
- Petukhova, Anna V.;
- Divashuk, Mikhail G.;
- Zotova, Evgenia D.;
- Sotnikova, Evgeniia A.;
- Abisheva, Alexandra A.;
- Muraveva, Alisa V.;
- Koretskiy, Sergey N.;
- Popov, Sergey V.;
- Utkina, Marina V.;
- Snigir, Ekaterina A.;
- Mitrofanov, Sergey I.;
- Konureeva, Ksenia D.;
- Mershina, Elena A.;
- Sinitsyn, Valentin E.
Publication type:
Article
A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene.
Published in:
Genes, 2022, v. 13, n. 2, p. 309, doi. 10.3390/genes13020309
By:
- Myasnikov, Roman;
- Bukaeva, Anna;
- Kulikova, Olga;
- Meshkov, Alexey;
- Kiseleva, Anna;
- Ershova, Alexandra;
- Petukhova, Anna;
- Divashuk, Mikhail;
- Zotova, Evgenia;
- Sotnikova, Evgeniia;
- Kharlap, Maria;
- Zharikova, Anastasia;
- Vyatkin, Yuri;
- Ramensky, Vasily;
- Abisheva, Alexandra;
- Muraveva, Alisa;
- Koretskiy, Sergey;
- Kudryavtseva, Maria;
- Popov, Sergey;
- Utkina, Marina
Publication type:
Article
The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy.
Published in:
Genes, 2021, v. 12, n. 1, p. 121, doi. 10.3390/genes12010121
By:
- Kulikova, Olga;
- Brodehl, Andreas;
- Kiseleva, Anna;
- Myasnikov, Roman;
- Meshkov, Alexey;
- Stanasiuk, Caroline;
- Gärtner, Anna;
- Divashuk, Mikhail;
- Sotnikova, Evgeniia;
- Koretskiy, Sergey;
- Kharlap, Maria;
- Kozlova, Viktoria;
- Mershina, Elena;
- Pilus, Polina;
- Sinitsyn, Valentin;
- Milting, Hendrik;
- Boytsov, Sergey;
- Drapkina, Oxana
Publication type:
Article
The LDLR , APOB , and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Published in:
Genes, 2021, v. 12, n. 1, p. 66, doi. 10.3390/genes12010066
By:
- Meshkov, Alexey;
- Ershova, Alexandra;
- Kiseleva, Anna;
- Zotova, Evgenia;
- Sotnikova, Evgeniia;
- Petukhova, Anna;
- Zharikova, Anastasia;
- Malyshev, Pavel;
- Rozhkova, Tatyana;
- Blokhina, Anastasia;
- Limonova, Alena;
- Ramensky, Vasily;
- Divashuk, Mikhail;
- Khasanova, Zukhra;
- Bukaeva, Anna;
- Kurilova, Olga;
- Skirko, Olga;
- Pokrovskaya, Maria;
- Mikova, Valeriya;
- Snigir, Ekaterina
Publication type:
Article
A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7556, doi. 10.3390/ijms25147556
By:
- Bukaeva, Anna;
- Myasnikov, Roman;
- Kulikova, Olga;
- Meshkov, Alexey;
- Kiseleva, Anna;
- Petukhova, Anna;
- Zotova, Evgenia;
- Sparber, Peter;
- Ershova, Alexandra;
- Sotnikova, Evgeniia;
- Kudryavtseva, Maria;
- Zharikova, Anastasia;
- Koretskiy, Sergey;
- Mershina, Elena;
- Ramensky, Vasily;
- Zaicenoka, Marija;
- Vyatkin, Yuri;
- Muraveva, Alisa;
- Abisheva, Alexandra;
- Nikityuk, Tatiana
Publication type:
Article
Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 17, p. 13159, doi. 10.3390/ijms241713159
By:
- Blokhina, Anastasia V.;
- Ershova, Alexandra I.;
- Kiseleva, Anna V.;
- Sotnikova, Evgeniia A.;
- Zharikova, Anastasia A.;
- Zaicenoka, Marija;
- Vyatkin, Yuri V.;
- Ramensky, Vasily E.;
- Kutsenko, Vladimir A.;
- Shalnova, Svetlana A.;
- Meshkov, Alexey N.;
- Drapkina, Oxana M.
Publication type:
Article

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