Sergey A. Korostelev

Moscow, MOW 115419, Russian Federation

Last Updated: 09/26/2026

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Found 20 publications

PSG and Other Candidate Genes as Potential Biomarkers of Therapy Resistance in B-ALL: Insights from Chromosomal Microarray Analysis and Machine Learning.

PSG and Other Candidate Genes as Potential Biomarkers of Therapy Resistance in B-ALL: Insights from Chromosomal Microarray Analysis and Machine Learning.

Journal: International journal of molecular sciences

Published: June 16, 2025

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

Journal: Human mutation

Published: June 09, 2023

Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy

Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy

Journal: Vestnik oftalmologii

Published: March 16, 2023

Genetic and Clinical Spectrum of GNE Myopathy in Russia.

Genetic and Clinical Spectrum of GNE Myopathy in Russia.

Journal: Genes

Published: September 13, 2022

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

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

Journal: Brain : a journal of neurology

Published: March 12, 2021

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

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

Journal: Parkinsonism & related disorders

Published: September 20, 2020

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.

Journal: BMC medical genomics

Published: July 30, 2020

SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold.

SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold.

Journal: Sovremennye tekhnologii v meditsine

Published: May 29, 2020

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

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

Journal: Metabolic brain disease

Published: October 14, 2019

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

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

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: July 19, 2019

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.

Journal: Clinical genetics

Published: September 12, 2018

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 08, 2018

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Last Updated: 09/26/2026