Research Centre for Medical Genetics

Recent papers from Research Centre for Medical Genetics

1. Chimeric iPSC-Derived Lung Organoids Reveal the Minimum Wild-Type Cell Fraction Detectable by the Forskolin-Induced Swelling Assay in Cystic FibrosisInternational Journal of Molecular Sciences · 2026
2. Electroretinography in assessing the effectiveness of Retinalamin in age-related macular degenerationRussian Ophthalmological Journal · 2026
3. Case Report: Hermansky-Pudlak syndrome type 1 in the Russian Federation presenting with genotype-phenotype discordanceFrontiers in Pediatrics · 2026
4. Evaluation of Functional Activity of Ciliated Epithelium in Patients with Primary Ciliary DyskinesiaDiagnostics · 2026
5. A Novel Glucocerebrosidase Allosteric Activator Prevents MPTP-Induced Neurodegeneration in MiceInternational Journal of Molecular Sciences · 2026
6. iPSC-Derived T and CAR-T Cells of Distinct Phenotypes: Current Protocols, Challenges and Potential for Cancer TreatmentCells · 2026
7. Recurrent Acute Liver Failure as the First Manifestation of ARCN1-Associated Disorder Caused by a Terminal Exon Frameshift VariantDiagnostics · 2026
8. A pilot study evaluating the safety of chronic retro-orbital administration of human glial progenitor cells in miceF1000Research · 2026
9. Tourettic obsessive-compulsive disorder: A clinical-phenomenological dilemma at the intersection of neurology and psychiatryS S Korsakov Journal of Neurology and Psychiatry · 2026
10. Shared Enrichment of the MUC5B Variant rs35705950 in Idiopathic Pulmonary Fibrosis and Fibrotic Hypersensitivity Pneumonitis: Evidence from a Russian CohortDiagnostics · 2026
11. Molecular diagnosis of non-syndromic craniosynostosis: new challenges for real clinical practiceBurdenko s Journal of Neurosurgery · 2026
12. CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR functionEBioMedicine · 2026
13. Dynamics of lung function in patients with cystic fibrosis living in the Volga Federal District in 2017 and 2023Journal of Respiratory Medicine · 2026
14. Expanding the Genetic Landscape of Severe Hypertriglyceridemia: The Role of Creb3l3 and Refined Diagnostic CriteriaAtherosclerosis · 2026
15. From Misdiagnosis to Targeted Therapy: Clinical, Genetic, and Diagnostic Insights From a Cohort of Patients With Sitosterolemia.Atherosclerosis · 2026
16. Homozygous Familial Hypercholesterolemia in RussiaAtherosclerosis · 2026
17. Normalization Strategies for miRNA RT-qPCR in Blood-Derived Samples in Obesity Research: Current Practices and Methodological ConsiderationsInternational Journal of Molecular Sciences · 2026
18. Whole-Genome Sequencing in Diagnostics of Unsolved Cases of Inherited Retinal DiseasesInternational Journal of Molecular Sciences · 2026
19. CFTR Functional Rescue and Heterogeneous Clinical Outcomes Following Elexacaftor/Tezacaftor/Ivacaftor Therapy in People with Cystic Fibrosis Carrying the W1282R VariantInternational Journal of Molecular Sciences · 2026
20. Clinical and Genetic Characterization of Russian Patients with von Hippel–Lindau SyndromeInternational Journal of Molecular Sciences · 2026