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

H. Skarżyński, M. Ołdak, D. Oziębło, 2020, Genes.

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

L. Kaczmarek, H. Skarżyński, P. Skarżyński, 2022, Molecular neurobiology.

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

C. Vermeer, J. Malejczyk, J. Szaflik, 2020, Acta ophthalmologica.

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

M. Ołdak, A. Ścieżyńska, D. Oziębło, 2017, Klinika oczna.

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

H. Skarżyński, M. Ołdak, A. Pollak, 2019, Journal of Translational Medicine.

POSTLINGUAL SENSORINEURAL HEARING LOSS DUE TO A VERY RARE COCH PATHOGENIC VARIANT

H. Skarżyński, D. Oziębło, Grażyna Tacikowska, 2018 .

Hearing Loss as the Main Clinical Presentation in NLRP3-Associated Autoinflammatory Disease

H. Skarżyński, M. Ołdak, M. Orzechowska, 2022, Frontiers in Immunology.

Effect of donor non-muscle myosin heavy chain (MYH9) gene polymorphisms on clinically relevant kidney allograft dysfunction

M. Durlik, J. Malejczyk, M. Ołdak, 2020, BMC Nephrology.

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

M. Durlik, J. Malejczyk, M. Ołdak, 2016, Transplantation proceedings.

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

L. Kaczmarek, H. Skarżyński, P. Skarżyński, 2021, Molecular Neurobiology.

Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis

H. Skarżyński, J. Szaflik, M. Ołdak, 2020, Audiology and Neurotology.

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

H. Skarżyński, M. Ołdak, Yehree Kim, 2022, Human Genetics.

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

J. Szaflik, M. Ołdak, Anna Wawrzynowska, 2018, Graefe's Archive for Clinical and Experimental Ophthalmology.

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

H. Skarżyński, M. Ołdak, Yehree Kim, 2022, Human Genetics.

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

M. Krawczyński, R. Płoski, J. Szaflik, 2016, Experimental eye research.

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

E. van Wijk, H. Kremer, F. Cremers, 2021, International journal of molecular sciences.

POSTLINGUAL SENSORINEURAL HEARING LOSS DUE TO KNOWN TBC1D24 GENE ALTERATION

H. Skarżyński, M. Ołdak, D. Oziębło, 2021, Journal of Hearing Science.

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

D. Plewczyński, M. Lazniewski, H. Skarżyński, 2021, Scientific Reports.

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

H. Skarżyński, M. Ołdak, D. Oziębło, 2020 .

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

H. Skarżyński, M. Ołdak, D. Oziębło, 2023, Genes.

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

H. Bolz, P. Nürnberg, H. Skarżyński, 2019, Journal of Translational Medicine.

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

R. Płoski, D. Plewczyński, M. Lazniewski, 2017, Journal of Translational Medicine.

Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants

H. Skarżyński, A. Lorens, M. Ołdak, 2020, Journal of clinical medicine.

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

L. Kaczmarek, H. Skarżyński, M. Ołdak, 2023, International journal of molecular sciences.

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

M. Ołdak, A. Pollak, U. Lechowicz, 2019, Journal of Translational Medicine.

Searching for the Molecular Basis of Partial Deafness

M. Ołdak, D. Oziębło, Natalia Bałdyga, 2022, International journal of molecular sciences.

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

H. Bolz, P. Nürnberg, M. Ołdak, 2019, Journal of Translational Medicine.

Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment

H. Kremer, F. Denoyelle, G. Girotto, 2023, Audiology research.

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

R. Płoski, J. Szaflik, M. Ołdak, 2015, BioMed research international.

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

L. Kaczmarek, M. Ołdak, M. Matusiak, 2023, European Archives of Oto-Rhino-Laryngology.

Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss

M. Ołdak, D. Oziębło, Nina Gan, 2023, Audiology and Neurotology.