Author

Elizaveta D. Pankratova

Pirogov Russian National Research Medical UniversityORCID 0009-0001-6456-592XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ekaterina V. SeminaiD· 1 shared Elizaveta V. Guldan· 1 shared Elvin H. Abasov· 1 shared Ivan Yu. IouroviD· 1 shared Maria E. IuditskaiaiD· 1 shared Yu. A. ChaikaiD· 1 shared О С КуриннаяiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperGenomics

Ekaterina V. SeminaORCID

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1 paper

Recent·Most cited

GenomicsScientific ReportsPeer-reviewedOct 23, 2026

Copy number variants (CNV) interfere with human Accelerated Regions (HARs) to cause neurodevelopmental disorders: a large-scale cohort study

Maria E. Iuditskaia, Ekaterina V. Semina, Elizaveta D. Pankratova…·Yu. A. Chaika

This study investigates the role of copy number variants (CNVs) disrupting Human Accelerated Regions (HARs) in neurodevelopmental disorders (NDDs) using a large cohort of 821 children, identifying three recurrent HAR loci associated with NDDs.

DOI 10.1038/s41598-026-76092-w

humanwhole-genome sequencing

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