Alexandra Yu Filatova (A Yu Filatova, Alexandra Y Filatova, Alexandra Filatova)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 24

Top Topics

Botulinum Toxin

Cystic Fibrosis

Genome Wide Identification

Top Venues

International journal of molecular sciences

Nucleic acids research

Clinical genetics

NPJ genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

G E Rudenskaya, Daria Guseva, Olga Mironovich, V A Kadnikova, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Oxana P Ryzhkova
[Developmental and epileptic encephalopathy produced by the ATP1A2 mutation]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 124 (6) (2024)
G E Rudenskaya, Daria Guseva, Olga Mironovich, V A Kadnikova, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Oxana P Ryzhkova
[Developmental and epileptic encephalopathy produced by the ATP1A2 mutation]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 124 (6) (2024)
Olga A Shchagina, Mariya Orlova, Aysylu F Murtazina, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Elena Dadali
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. International journal of molecular sciences 24 (12) (2023)
Alexandra Yu Filatova, Ivan Reveguk, Maria Piatkova, Daria Bessonova, Olga Kuziakova, Victoria Demakova, Alexander Romanishin, Veniamin S Fishman, Yerzhan Imanmalik, Nikolay Chekanov, Rostislav K Skitchenko, Yury A Barbitoff, Olga Kardymon, Mikhail Yurevich Skoblov
Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs. Nucleic acids research 51 (3) (2023)
Alexandra Yu Filatova, Ivan Reveguk, Maria Piatkova, Daria Bessonova, Olga Kuziakova, Victoria Demakova, Alexander Romanishin, Veniamin S Fishman, Yerzhan Imanmalik, Nikolay Chekanov, Rostislav K Skitchenko, Yury A Barbitoff, Olga Kardymon, Mikhail Yurevich Skoblov
Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs. Nucleic acids research (2023)
Alexandra Yu Filatova, Ivan Reveguk, Maria Piatkova, Daria Bessonova, Olga Kuziakova, Victoria Demakova, Alexander Romanishin, Veniamin S Fishman, Yerzhan Imanmalik, Nikolay Chekanov, Rostislav K Skitchenko, Yury A Barbitoff, Olga Kardymon, Mikhail Yurevich Skoblov
Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs. Nucleic acids research 51 (3) (2023)
Peter A Sparber, Margarita Sharova, Ksenia Davydenko, Denis Pyankov, Alexandra Yu Filatova, Mikhail Yurevich Skoblov
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing. Brain : a journal of neurology (2023)
Alexandra Yu Filatova, Ivan Reveguk, Maria Piatkova, Daria Bessonova, Olga Kuziakova, Victoria Demakova, Alexander Romanishin, Veniamin S Fishman, Yerzhan Imanmalik, Nikolay Chekanov, Rostislav K Skitchenko, Yury A Barbitoff, Olga Kardymon, Mikhail Yurevich Skoblov
Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs. Nucleic acids research (2023)
Alexandra Yu Filatova, Ivan Reveguk, Maria Piatkova, Daria Bessonova, Olga Kuziakova, Victoria Demakova, Alexander Romanishin, Veniamin S Fishman, Yerzhan Imanmalik, Nikolay Chekanov, Rostislav K Skitchenko, Yury A Barbitoff, Olga Kardymon, Mikhail Yurevich Skoblov
Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs. Nucleic acids research 51 (3) (2023)
Olga A Shchagina, Mariya Orlova, Aysylu F Murtazina, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Elena Dadali
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. International journal of molecular sciences 24 (12) (2023)
Olga A Shchagina, Mariya Orlova, Aysylu F Murtazina, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Elena Dadali
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. International journal of molecular sciences 24 (12) (2023)
Igor O Bychkov, Antonina Kuznetsova, Galina Baydakova, Leonid Gorobets, Vladimir M Kenis, Alena Dimitrieva, Alexandra Yu Filatova, Vyacheslav Tabakov, Mikhail Yurevich Skoblov, Ekaterina Zakharova
Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape. NPJ genomic medicine 7 (1) (2022)
Iuliia V Viakhireva, Natalia Kalinchenko, Evgeny V Vasilyev, Galina V Chistousova, Alexandra Yu Filatova, Andrey A Marakhonov, Petr M Rubtsov, Mikhail Yurevich Skoblov, Anatoly Tiulpakov
A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA. The Journal of clinical endocrinology and metabolism 107 (9) (2022)
Liubov O Skorodumova, Ksenia A Davydenko, Alexandra Yu Filatova, Mikhail Yu Skoblov, Nikolay A Kulemin, Maryam B Khadzhieva, Elena S Zakharova, Veronika D Gordeeva, Nataliya S Smetanina, Irina V Fedyushkina, Lyudmila A Anastasevich, Sergey S Larin
Splice-site variant in the RPS7 5'-UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia. Clinical genetics (2022)
Igor O Bychkov, Antonina Kuznetsova, Galina Baydakova, Leonid Gorobets, Vladimir M Kenis, Alena Dimitrieva, Alexandra Yu Filatova, Vyacheslav Tabakov, Mikhail Yurevich Skoblov, Ekaterina Zakharova
Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape. NPJ genomic medicine 7 (1) (2022)
Alexandra Yu Filatova, Tatyana A Vasilyeva, Andrey A Marakhonov, Natella V Sukhanova, Anna A Voskresenskaya, Rena A Zinchenko, Mikhail Y Skoblov
Upstream ORF frameshift variants in the PAX6 5'UTR cause congenital aniridia. Human mutation 42 (8) (2021)
Daria Konina, Peter A Sparber, Iuliia Viakhireva, Alexandra Yu Filatova, Mikhail Yurevich Skoblov
Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Functioning at mRNA and Protein Level. International journal of molecular sciences 22 (16) (2021)
Igor O Bychkov, Artur Galushkin, Alexandra Yu Filatova, Andrey Nekrasov, Marina Kurkina, Galina Baydakova, Alexandra Ilyushkina, Mikhail Yurevich Skoblov, Ekaterina Zakharova
Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing. International journal of molecular sciences 22 (8) (2021)
Elena I Kondratyeva, Tatiana Borisovna Bukharova, Anna Efremova, Yuliya Melyanovskaya, Natalia Bulatenko, Ksenia Davydenko, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Stanislav Krasovsky, Nika Petrova, Alexander Polyakov, Tagui Adyan, Elena Amelina, Vera Shadrina, Elena Zhekaite, Aysa Zodbinova, Alexander Chernyak, Rena A Zinchenko, Sergei Kutsev, Dmitry Goldshtein
Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant. Genes 12 (6) (2021)
Igor O Bychkov, Galina Baydakova, Alexandra Yu Filatova, Ochir Migiaev, Andrey A Marakhonov, Nataliya Pechatnikova, Ekaterina Pomerantseva, Fedor A Konovalov, Maria Ampleeva, Vladimir Kaimonov, Mikhail Yurevich Skoblov, Ekaterina Zakharova
Complex Transposon Insertion as a Novel Cause of Pompe Disease. International journal of molecular sciences 22 (19) (2021)
Andrey A Marakhonov, Magdalena Přechová, Fedor A Konovalov, Alexandra Yu Filatova, Maria A Zamkova, Ilya V Kanivets, Vladimir G Solonichenko, Natalia A Semenova, Rena A Zinchenko, Richard Treisman, Mikhail Yurevich Skoblov
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia. Clinical genetics 99 (5) (2021)
Svetlana Papizh, Victoria Serzhanova, Alexandra Yu Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina
CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report. BMC nephrology 20 (1) (2019)
Alexandra Yu Filatova, Valeria Freire, Ekaterina R Tolmacheva, Fedor Konovalov, Ludmila Bessonova, Elena Iudina, Valentina Gnetetskaya, Ilya Kanivets, Sergey Korostelev, Mikhail Skoblov
Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome. Clinical genetics 95 (3) (2018)
Alexandra Yu Filatova, Tatiana A Vasilyeva, Andrey A Marakhonov, Anna A Voskresenskaya, Rena A Zinchenko, Mikhail Yu Skoblov
Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay. European journal of human genetics : EJHG 27 (3) (2018)