Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

С. А. Коростелев | Researchclopedia

Back to researchers

С. А. Коростелев

Research Centre for Medical Genetics ORCID

72

Works

396

Citations

9

h-index

9

i10-index

Research Topics

Prenatal Screening and Diagnostics Genomic variations and chromosomal abnormalities Genetic factors in colorectal cancer

Affiliations

Altai State Technical University2019–2024

Academy of Medical Sciences1995–1995

Sechenov University2015–2024

Weatherford College2020–2020

Ural State Medical University2021–2021

Top Works

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen,Yuanyuan Liu,et al.

2021140 citations

Genetics and Neurodevelopmental Disorders

Genomics and Rare Diseases

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Frédéric Tran Mau‐Them,Laurent Guibaud,et al.

201860 citations

De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features

Ekaterina Lozier,Fedor A. Konovalov,et al.

201838 citations

Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene

Marina V. Kurkina,Svetlana Mikhaylova,et al.

202027 citations

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen,Yuanyuan Liu,et al.

202123 citations

Genetic and Clinical Spectrum of GNE Myopathy in Russia

Aysylu Murtazina,С. С. Никитин,et al.

202214 citations

Epigenomic variations manifesting as a loss of heterozygosity affecting imprinted genes represent a molecular mechanism of autism spectrum disorders and intellectual disability in children

Ivan Y. Iourov,Svetlana G. Vorsanova,et al.

201911 citations

Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia

Peter Sparber,Tatiana Krylova,et al.

202110 citations

Structural variations of the genome in autistic spectrum disorders with intellectual disability

Ivan Y. Iourov,Svetlana G. Vorsanova,et al.

201610 citations