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Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery

BMC genomics, 2022-02, Vol.23 (1), p.155-17, Article 155

2022

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Pharmacogenetics of Type 2 Diabetes-Progress and Prospects

International journal of molecular sciences, 2020-09, Vol.21 (18), p.6842

2020

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Diagnostics of preeclampsia based on Congo red binding to urinary components: Rationales and limitations

PloS one, 2024-01, Vol.19 (1), p.e0297144-e0297144

2024

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Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience

Journal of personalized medicine, 2023-08, Vol.13 (8), p.1236

2023

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Protein Misfolding during Pregnancy: New Approaches to Preeclampsia Diagnostics

International journal of molecular sciences, 2019-12, Vol.20 (24), p.6183

2019

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The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss

International journal of molecular sciences, 2023-12, Vol.24 (24), p.17572

2023

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Description of the First Registered Case of Lopes-Maciel-Rodan Syndrome in Russia

International journal of molecular sciences, 2022-10, Vol.23 (20), p.12437

2022

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A Data-Driven Review of the Genetic Factors of Pregnancy Complications

International journal of molecular sciences, 2020-05, Vol.21 (9), p.3384

2020

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Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients

Current issues in molecular biology, 2024-05, Vol.46 (5), p.4106-4118

2024

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Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review

Frontiers in genetics, 2022-05, Vol.13, p.846101-846101

2022

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Plasma microRNA Profiling in Type 2 Diabetes Mellitus: A Pilot Study

International journal of molecular sciences, 2023-12, Vol.24 (24), p.17406

2023

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Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure

Physiological reports, 2024-04, Vol.12 (8), p.e16015-e16015

2024

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Current Status and Prospects of the Single-Cell Sequencing Technologies for Revealing the Pathogenesis of Pregnancy-Associated Disorders

Genes, 2023-03, Vol.14 (3), p.756

2023

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Overview of Transcriptomic Research on Type 2 Diabetes: Challenges and Perspectives

Genes, 2022-06, Vol.13 (7), p.1176

2022

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Replication of Known and Identification of Novel Associations in Biobank-Scale Datasets: A Survey Using UK Biobank and FinnGen

Genes, 2024-07, Vol.15 (7), p.931

2024

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RNA Sequencing of Whole Blood Defines the Signature of High Intensity Exercise at Altitude in Elite Speed Skaters

Genes, 2022-03, Vol.13 (4), p.574

2022

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Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases

Genes, 2023-11, Vol.14 (11), p.2100

2023

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Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples

Genes, 2024-01, Vol.15 (1), p.45

2024

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Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis

Frontiers in genetics, 2024-02, Vol.15, p.1344051

2024

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bioGWAS: A Simple and Flexible Tool for Simulating GWAS Datasets

Biology (Basel, Switzerland), 2023-12, Vol.13 (1), p.10

2023

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Plasma miRNA Profile in High Risk of Preterm Birth during Early and Mid-Pregnancy

Genes, 2022-11, Vol.13 (11), p.2018

2022

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Analytical "bake-off" of whole genome sequencing quality for the Genome Russia project using a small cohort for autoimmune hepatitis

PloS one, 2018-07, Vol.13 (7), p.e0200423-e0200423

2018

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Assessment of quadrivalent characteristics influencing chromosome segregation by analyzing human preimplantation embryos from reciprocal translocation carriers

Comparative cytogenetics, 2024-01, Vol.18, p.1-13

2024

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Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing

Genes, 2023-04, Vol.14 (4), p.913

2023

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Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery

Pharmacogenetics of Type 2 Diabetes-Progress and Prospects

Diagnostics of preeclampsia based on Congo red binding to urinary components: Rationales and limitations

Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience

Protein Misfolding during Pregnancy: New Approaches to Preeclampsia Diagnostics

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss

Description of the First Registered Case of Lopes-Maciel-Rodan Syndrome in Russia

Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome

A Data-Driven Review of the Genetic Factors of Pregnancy Complications

Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients

Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review

Plasma microRNA Profiling in Type 2 Diabetes Mellitus: A Pilot Study

Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure

Current Status and Prospects of the Single-Cell Sequencing Technologies for Revealing the Pathogenesis of Pregnancy-Associated Disorders

Overview of Transcriptomic Research on Type 2 Diabetes: Challenges and Perspectives

Replication of Known and Identification of Novel Associations in Biobank-Scale Datasets: A Survey Using UK Biobank and FinnGen

RNA Sequencing of Whole Blood Defines the Signature of High Intensity Exercise at Altitude in Elite Speed Skaters

Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases

Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples

Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis

bioGWAS: A Simple and Flexible Tool for Simulating GWAS Datasets

Plasma miRNA Profile in High Risk of Preterm Birth during Early and Mid-Pregnancy

Analytical "bake-off" of whole genome sequencing quality for the Genome Russia project using a small cohort for autoimmune hepatitis

Assessment of quadrivalent characteristics influencing chromosome segregation by analyzing human preimplantation embryos from reciprocal translocation carriers

Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing

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