List of works - Dominika Oziębło

Analysis of major otosclerosis-associated variants in RELN and TGFB1 genes in Polish patients

Association of MYH9 rs3752462 and rs5756168 Polymorphisms With Transplanted Kidney Artery Stenosis.

scientific article published on June 2016

Autosomal dominant hearing loss – literature review

scientific article published in 2023

Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants

scientific article published on 06 August 2018

Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants

scientific article published on 15 January 2020

Experimenal studies On cell and gene therapies for retinal dystrophies with a particular focus On ABCA4 retinopathies

Experimental studies on medical treatments of retinal dystrophies with a particular focus on ABCA4 retinopathies

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

scientific article published on 26 October 2019

Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level.

scientific article

High expression of Matrix Gla Protein in Schnyder corneal dystrophy patients points to an active role of vitamin K in corneal health

scientific article published on 29 June 2020

Longitudinal Changes in BDNF and MMP-9 Protein Plasma Levels in Children after Cochlear Implantation

scientific article published in 2023

MMP-9 plasma level as biomarker of cochlear implantation outcome in cohort study of deaf children

scientific article published in 2023

Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss

scientific article published in 2023

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

scientific article published on 21 November 2015

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.

scientific article

Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss

scientific article published on 14 August 2019

POSTLINGUAL SENSORINEURAL HEARING LOSS DUE TO KNOWN TBC1D24 GENE ALTERATION

scientific article published in 2022

Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.

scientific article published on 25 September 2015

Prospective cohort study reveals MMP-9, a neuroplasticity regulator, as a prediction marker of cochlear implantation outcome in prelingual deafness treatment

scientific article published in 2022

TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss

scientific article

The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation

scientific article published in 2023

Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement

scientific article published on 08 September 2020

Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss

scientific article published in 2022

List of works by Dominika Oziębło

Analysis of major otosclerosis-associated variants in RELN and TGFB1 genes in Polish patients

Association of MYH9 rs3752462 and rs5756168 Polymorphisms With Transplanted Kidney Artery Stenosis.

Autosomal dominant hearing loss – literature review

Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants

Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants

Experimenal studies On cell and gene therapies for retinal dystrophies with a particular focus On ABCA4 retinopathies

Experimental studies on medical treatments of retinal dystrophies with a particular focus on ABCA4 retinopathies

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level.

High expression of Matrix Gla Protein in Schnyder corneal dystrophy patients points to an active role of vitamin K in corneal health

Longitudinal Changes in BDNF and MMP-9 Protein Plasma Levels in Children after Cochlear Implantation

MMP-9 plasma level as biomarker of cochlear implantation outcome in cohort study of deaf children

Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.

Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss

POSTLINGUAL SENSORINEURAL HEARING LOSS DUE TO KNOWN TBC1D24 GENE ALTERATION

Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.

Prospective cohort study reveals MMP-9, a neuroplasticity regulator, as a prediction marker of cochlear implantation outcome in prelingual deafness treatment

TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss

The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation

Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement

Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss

[Fuchs endothelial corneal dystrophy and trinucleotide repeat expansion in TCF4--implications for diagnostics and therapy]