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M. Ołdak · SciRah

Researcher profile · Semantic Scholar

M. Ołdak

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M. Ołdak — researcher profile on SciRah

h-index: 20
Works: 143
Citations: 1,607

Most-cited papers

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan, S. S. Cornelis, M. Del Pozo-Valero, Laura Whelan +71 more
2020Genetics in Medicine125 citations Open access
Semantic Scholar
Cervical cancer cell‐derived interleukin‐6 impairs CCR7‐dependent migration of MMP‐9‐expressing dendritic cells
Jennifer Pahne-Zeppenfeld, Nadine Schröer, B. Walch-Rückheim, M. Ołdak +3 more
2014International Journal of Cancer89 citations
Semantic Scholar
Human Papillomavirus Type 8 Interferes with a Novel C/EBPβ-Mediated Mechanism of Keratinocyte CCL20 Chemokine Expression and Langerhans Cell Migration
T. Sperling, M. Ołdak, B. Walch-Rückheim, C. Wickenhauser +6 more
2012PLoS Pathogens83 citations Open access
Semantic Scholar
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome
M. Ołdak, D. Oziębło, A. Pollak, I. Stępniak +9 more
2017Journal of Translational Medicine51 citations Open access
Semantic Scholar
Isolation and culture of human primary keratinocytes—a methods review
A. Ścieżyńska, A. Nogowska, M. Sikorska, Justyna Konys +4 more
2018Experimental Dermatology39 citations Open access
Semantic Scholar
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.
A. Ścieżyńska, D. Oziębło, A. M. Ambroziak, M. Korwin +7 more
2016Experimental Eye Research39 citations
Semantic Scholar
Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level
M. Ołdak, Ewelina Ruszkowska, M. Udziela, D. Oziębło +4 more
2015BioMed Research International29 citations Open access
Semantic Scholar
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement
D. Oziębło, J. Pazik, I. Stępniak, H. Skarżyńśki +1 more
2020Genes28 citations Open access
Semantic Scholar
Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss
A. Pollak, Urszula Lechowicz, A. Kȩdra, P. Stawiński +8 more
2016PLoS ONE25 citations Open access
Semantic Scholar
Chronic Inflammatory Microenvironment in Epidermodysplasia Verruciformis Skin Lesions: Role of the Synergism Between HPV8 E2 and C/EBPβ to Induce Pro-Inflammatory S100A8/A9 Proteins
M. Podgórska, M. Ołdak, A. Marthaler, A. Fingerle +9 more
2018Frontiers in Microbiology19 citations Open access
Semantic Scholar
Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss
A. Pollak, Urszula Lechowicz, Victor Murcia-Pienkowski, P. Stawiński +4 more
2017BMC Medical Genetics19 citations Open access
Semantic Scholar
The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation
N. Bałdyga, D. Oziębło, Nina Gan, M. Furmanek +3 more
2023Genes18 citations Open access
Semantic Scholar
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype–phenotype correlation
K. Wertheim-Tysarowska, M. Ołdak, Aleksandra Giza, A. Kutkowska-Kaźmierczak +10 more
2015Journal of Applied Genetics18 citations Open access
Semantic Scholar
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene
D. Oziębło, A. Sarosiak, M. Leja, B. Budde +6 more
2019Journal of Translational Medicine17 citations Open access
Semantic Scholar
Hearing Loss as the Main Clinical Presentation in NLRP3-Associated Autoinflammatory Disease
D. Oziębło, M. Leja, A. Jeznach, M. Orzechowska +6 more
2022Frontiers in Immunology16 citations Open access
Semantic Scholar
Testosterone increases apoptotic cell death and decreases mitophagy in Leber’s hereditary optic neuropathy cells
Elona Jankauskaitė, A. M. Ambroziak, P. Hajieva, M. Ołdak +4 more
2020Journal of Applied Genetics14 citations Open access
Semantic Scholar
Advances in genetic hearing loss: CIB2 gene
A. Jacoszek, A. Pollak, R. Płoski, M. Ołdak
2016European Archives of Oto-Rhino-Laryngology13 citations Open access
Semantic Scholar
Uridine diphosphate glucuronosyltransferase 2B7 variant p.His268Tyr as a predictor of kidney allograft early acute rejection.
J. Pazik, M. Ołdak, Z. Lewandowski, M. Podgórska +6 more
2013Transplantation Proceedings13 citations
Semantic Scholar
TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss
D. Oziębło, M. Leja, M. Lazniewski, A. Sarosiak +5 more
2021Scientific Reports12 citations Open access
Semantic Scholar
Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants
D. Oziębło, A. Obrycka, A. Lorens, H. Skarżyńśki +1 more
2020Journal of Clinical Medicine12 citations Open access
Semantic Scholar
Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen
Urszula Lechowicz, T. Gambin, A. Pollak, A. Podgórska +7 more
2017Scientific Reports12 citations Open access
Semantic Scholar
Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
A. Ścieżyńska, Marta Soszyńska, Michał Komorowski, A. Podgórska +8 more
2020International Journal of Molecular Sciences11 citations Open access
Semantic Scholar
Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss
M. Ołdak, U. Lechowicz, A. Pollak, D. Oziębło +1 more
2019Journal of Translational Medicine11 citations Open access
Semantic Scholar
Tinnitus in patients with hearing loss due to mitochondrial DNA pathogenic variants
Urszula Lechowicz, A. Pollak, D. Raj-Koziak, Beata Dziendziel +3 more
2018European Archives of Oto-Rhino-Laryngology11 citations Open access
Semantic Scholar
Late-Onset Lattice Corneal Dystrophy Without Typical Lattice Lines Caused by a Novel Mutation in the TGFBI Gene
M. Ołdak, J. Szaflik, A. Ścieżyńska, M. Udziela +8 more
2014Cornea11 citations
Semantic Scholar
Evidence Against RAB40AL Being the Locus for Martin–Probst X‐Linked Deafness–Intellectual Disability Syndrome
M. Ołdak, A. Ścieżyńska, W. Młynarski, M. Borowiec +8 more
2014Human Mutation11 citations
Semantic Scholar
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A
Janine Reurink, Jaap Oostrik, Marco Aben, Mariana Guimarães Ramos +6 more
2022International Journal of Molecular Sciences10 citations Open access
Semantic Scholar
Longrange PCR-based next-generation sequencing in pharmacokinetics and pharmacodynamics study of propofol among patients under general anaesthesia
Oliwia Zakerska-Banaszak, M. Skrzypczak-Zielińska, B. Tamowicz, A. Mikstacki +10 more
2017Scientific Reports10 citations Open access
Semantic Scholar
MTHFR 677T Is a Strong Determinant of the Degree of Hearing Loss Among Polish Males with Postlingual Sensorineural Hearing Impairment
A. Pollak, M. Mueller-Malesińska, Urszula Lechowicz, A. Skórka +8 more
2012DNA and Cell Biology10 citations Open access
Semantic Scholar
Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss
Nina Gan, D. Oziębło, H. Skarżyńśki, M. Ołdak
2023Audiology and Neurotology9 citations Open access
Semantic Scholar
Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss
D. Oziębło, Sang-Yeon Lee, M. Leja, A. Sarosiak +8 more
2022Human Genetics9 citations
Semantic Scholar
Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation
Agnieszka Piotrowska-Nowak, M. Krawczyński, Ewa Kosior-Jarecka, A. M. Ambroziak +4 more
2020Metabolic brain disease9 citations Open access
Semantic Scholar
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
R. Hitti-Malin, Daan M. Panneman, Z. Corradi, E. Boonen +56 more
2024Biomolecules8 citations Open access
Semantic Scholar
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment
L. Jonard, D. Brotto, M. Moreno-Pelayo, I. del Castillo +29 more
2023Audiology Research8 citations Open access
Semantic Scholar
Functional Polymorphism of MMP9 and BDNF as Potential Biomarker of Auditory Neuroplasticity in Prelingual Deafness Treatment With Cochlear Implantation—A Retrospective Cohort Analysis
Monika Matusiak, Dominika OzieRbło, A. Obrycka, M. Ołdak +3 more
2021Trends in Hearing8 citations Open access
Semantic Scholar
Prospective cohort study reveals MMP-9, a neuroplasticity regulator, as a prediction marker of cochlear implantation outcome in prelingual deafness treatment
Monika Matusiak, D. Oziębło, M. Ołdak, E. Rejmak +3 more
2021Molecular Neurobiology8 citations Open access
Semantic Scholar
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
Janine Reurink, Adrian Dockery, D. Oziębło, G. Farrar +16 more
2021International Journal of Molecular Sciences8 citations Open access
Semantic Scholar
Pathology of mitochondria in MELAS syndrome: an ultrastructural study.
Paulina Felczak, E. Lewandowska, I. Stępniak, M. Ołdak +5 more
2017Polish journal of pathology : official journal of the Polish Society of Pathologists8 citations Open access
Semantic Scholar
DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients
Anna Skorczyk-Werner, K. Tońska, Aleksandra Maciejczuk, K. Nowomiejska +4 more
2023International Journal of Molecular Sciences7 citations Open access
Semantic Scholar
Clinical diversity in patients with Schnyder corneal dystrophy—a novel and known UBIAD1 pathogenic variants
A. Sarosiak, M. Udziela, A. Ścieżyńska, D. Oziębło +3 more
2018Graefe's Archive for Clinical and Experimental Ophthalmology7 citations Open access
Semantic Scholar
Application of next-generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss
Urszula Lechowicz, A. Pollak, A. Frączak, M. Rydzanicz +6 more
2017Molecular Medicine Reports7 citations Open access
Semantic Scholar
Association of MYH9 rs3752462 and rs5756168 Polymorphisms With Transplanted Kidney Artery Stenosis.
J. Pazik, Z. Lewandowski, M. Ołdak, D. Oziębło +7 more
2016Transplantation Proceedings7 citations
Semantic Scholar
Recipient uridine 5'-diphospho-glucuronosyltransferase UGT1A9 c.98T>C variant determines transplanted kidney filtration rate.
J. Pazik, M. Ołdak, Z. Lewandowski, M. Dąbrowski +5 more
2014Transplantation Proceedings7 citations
Semantic Scholar
Zebrafish in-vivo study reveals deleterious activity of human TBC1D24 genetic variants linked with autosomal dominant hearing loss.
A. Sarosiak, J. Jędrychowska, D. Oziębło, Nina Gan +9 more
2024Biochimica et Biophysica Acta - Molecular Basis of Disease6 citations Open access
Semantic Scholar
High expression of Matrix Gla Protein in Schnyder corneal dystrophy patients points to an active role of vitamin K in corneal health
A. Sarosiak, D. Oziębło, M. Udziela, C. Vermeer +3 more
2020Acta ophthalmologica6 citations Open access
Semantic Scholar
Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan, S. S. Cornelis, M. Del Pozo-Valero, Laura Whelan +71 more
2019bioRxiv6 citations Open access
Semantic Scholar
Malnutrition Risk in Kidney Recipients Treated With Mycophenolate Mofetil Is Associated With IMPDH1 rs2278294 Polymorphism.
J. Pazik, Z. Lewandowski, E. Nowacka Cieciura, M. Ołdak +4 more
2018Transplantation Proceedings6 citations
Semantic Scholar
Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis
N. Bałdyga, A. Sarosiak, D. Oziębło, M. Furmanek +4 more
2020Audiology and Neurotology5 citations
Semantic Scholar
A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene
M. Ołdak, Ewelina Ruszkowska, A. Pollak, A. Sobczyk-Kopcioł +4 more
2014European Journal of Pediatrics5 citations Open access
Semantic Scholar
Next Generation Sequencing in Vision and Hearing Impairment
M. Ołdak
20164 citations
Semantic Scholar

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