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Tatyana A. Vasilyeva

Observed names: T. A. Vasilyeva, T. Vasil'yeva, T. Vasilyeva, T.A. Vasil'eva, T.A. Vasilyeva, Tatiana A. Vasilyeva, Tatyana A Vasilyeva, Tatyana Vasilyeva, Vasilyeva, Tatyana A., Васильева, Т.А., Т.А. Васильева
ORCID: 0000-0002-6744-0567
Observed ORCID: 0000-0002-6744-0567
OpenAlex ID: A5001396342
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations
2017 · T.A. Vasilyeva, A.A. Voskresenskaya, et al. · Clinical Genetics · 47
Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay
2018 · Alexandra Yu. Filatova, Tatiana A. Vasilyeva, et al. · European Journal of Human Genetics · 42
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Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
2016 · Nikolay V. Zernov, Mikhail Y. Skoblov, et al. · Journal of Investigative Dermatology · 41
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Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation
2021 · Nika Petrova, Natalia Balinova, et al. · Frontiers in Genetics · 40
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Analysis of genotype–phenotype correlations in PAX6-associated aniridia
2020 · Tatyana A. Vasilyeva, Andrey V. Marakhonov, et al. · Journal of Medical Genetics · 40
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients
2020 · Nika V. Petrova, Nataliya Y. Kashirskaya, et al. · Genes · 35
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Upstream ORF frameshift variants in thePAX65ʹUTR cause congenital aniridia
2021 · Alexandra Y. Filatova, Tatyana A. Vasilyeva, et al. · Human Mutation · 25
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic
2020 · Rena A. Zinchenko, Amin Kh. Makaov, et al. · International Journal of Molecular Sciences · 23
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LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome
2019 · Andrey V Marakhonov, Tatyana A Vasilyeva, et al. · Human Molecular Genetics · 22
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
2020 · Andrey V. Marakhonov, Anna A. Voskresenskaya, et al. · Orphanet Journal of Rare Diseases · 20
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Clinical and morphological manifestations of aniridia-associated keratopathy on anterior segment optical coherence tomography and in vivo confocal microscopy
2017 · Anna Voskresenskaya, Nadezhda Pozdeyeva, et al. · The Ocular Surface · 20
High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia
2016 · N.V. Petrova, N.Yu Kashirskaya, et al. · Journal of Cystic Fibrosis · 20
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Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders
2018 · Andrey V. Marakhonov, Fedor A. Konovalov, et al. · BMC Medical Genomics · 18
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Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus
2019 · N. V. Petrova, N. Y. Kashirskaya, et al. · BMC Medical Genetics · 17
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High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients
2022 · Nika V. Petrova, Nataliya Y. Kashirskaya, et al. · BMC Genomics · 15
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Morphometric analysis of the lens in human aniridia and mouse Small eye
2020 · Anna Voskresenskaya, Nadezhda Pozdeyeva, et al. · Experimental Eye Research · 14
A Clinical and Molecular Analysis of Branchio‐Oculo‐Facial Syndrome Patients in Russia Revealed New Mutations in TFAP2A
2015 · Tatiana I. Meshcheryakova, Rena A. Zinchenko, et al. · Annals of Human Genetics · 12
Genetic Approaches to Differential Diagnosis of Hereditary Forms of Congenital Aniridia
2017 · T. A. Vasilyeva, A. A. Voskresenskaya, et al. · Annals of the Russian academy of medical sciences · 10
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Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation
2018 · Nika V. Petrova, Andrey V. Marakhonov, et al. · Clinical Genetics · 9
PAX6 Gene Characteristic and Causative Role of PAX6 Mutations in Inherited Eye Pathologies
2018 · T. A. Vasilyeva, A. A. Voskresenskaya, et al. · Russian Journal of Genetics · 8
Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome
2020 · Tatyana A. Vasilyeva, Andrey V. Marakhonov, et al. · Genes · 6
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Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania
2023 · Nika Petrova, Inna Tebieva, et al. · PeerJ · 5
Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report
2020 · Andrey V. Marakhonov, Irina A. Mishina, et al. · BMC Medical Genetics · 5
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A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region
2020 · Tatyana A. Vasilyeva, Andrey V. Marakhonov, et al. · BMC Medical Genomics · 5
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Phenotypic features in patients with cystic fibrosis with L138ins (p.Leu138dup) mutation
2017 · N.V. Petrova, N.Y. Kashirskaya, et al. · PEDIATRIA Journal named after G N SPERANSKY · 5
Works count: 79
Citation count: 553
H-index: 15
I10-index: 18
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