List of works - Olga Posukh

A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).

scientific article published on 6 November 2017

Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia

scientific article

Ancient human genomes suggest three ancestral populations for present-day Europeans

scientific article

Ancient human genomes suggest three ancestral populations for present-day Europeans

Association Analysis of Genetic Variants with Type 2 Diabetes in a Mongolian Population in China

scientific article

Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect

scientific article

Comparison of Predictive Tools on Missense Variants in , , and Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)

article

Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)

scientific article published on 20 December 2021

First molecular screening of deafness in the Altai Republic population

scientific article

Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss

scientific article published in 2021

Genetic etiology of hearing loss in Russia

scientific article published in 2021

Genomic evidence for the Pleistocene and recent population history of Native Americans

scientific article

Global diversity, population stratification, and selection of human copy-number variation

scientific article

High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect

scientific article published on 21 July 2020

Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)

scientific article published in 2023

Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations

scientific article published on 21 March 2017

Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss

scientific article published in 2022

Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)

scientific article

The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

scientific article published in 2023

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

scientific article

Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys)

scientific article published on 05 June 2019

Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

scientific article published on 07 August 2018

Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).

scientific article

List of works by Olga Posukh

A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).

Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia

Ancient human genomes suggest three ancestral populations for present-day Europeans

Ancient human genomes suggest three ancestral populations for present-day Europeans

Association Analysis of Genetic Variants with Type 2 Diabetes in a Mongolian Population in China

Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect

Comparison of Predictive Tools on Missense Variants in , , and Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)

Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)

First molecular screening of deafness in the Altai Republic population

Functional Evaluation of a Rare Variant c.516G&gt;C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss

Genetic etiology of hearing loss in Russia

Genomic evidence for the Pleistocene and recent population history of Native Americans

Global diversity, population stratification, and selection of human copy-number variation

High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect

Insight into the Natural History of Pathogenic Variant c.919-2A&gt;G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)

Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations

Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss

Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)

The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys)

Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).

Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss

Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)