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Author

Sebastian Skoczylas

Observed name: S. Skoczylas
Observed institution: Medical University of Lodz
ORCID: 0000-0003-2760-2397
Observed ORCID: 0000-0003-2760-2397
OpenAlex ID: A5083193435
Gut microbiota in alopecia areata
2022 · Karolina Brzychcy, Izabela Dróżdż, et al. · Advances in Dermatology and Allergology · 22
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Evaluation of the Oral Bacterial Genome and Metabolites in Patients with Wolfram Syndrome
2023 · E. Zmysłowska-Polakowska, T. Płoszaj, et al. · International Journal of Molecular Sciences · 6
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Identification of rare variants in candidate genes associated with monogenic diabetes in polish mody-x patients
2023 · Paulina Jakiel, K. Gadzalska, et al. · Journal of Diabetes & Metabolic Disorders · 5
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Evaluation of the Oral Microbiome in Patients with Alström and Bardet-Biedl Syndromes and Their Heterozygous Family Members
2025 · Ewa Zmysłowska-Polakowska, Tomasz Płoszaj, et al. · Microorganisms · 4
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The Clinical and Diagnostic Characterization of 6q24-Related Transient Neonatal Diabetes Mellitus: A Polish Pediatric Cohort Study
2025 · Michał Pietrusiński, Julia Grzybowska-Adamowicz, et al. · Biomedicines · 4
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Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene
2026 · Ewa Juścińska, Karolina Gadzalska, et al. · Neurogenetics · 3
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Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype–Phenotype Correlations
2024 · Julia Grzybowska-Adamowicz, Karolina Gadzalska, et al. · Genes · 3
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Transient Neonatal Diabetes Mellitus with an Unknown Cause in a 1-Month-Old Infant: A Case Report
2024 · Mateusz Tarasiewicz, Anna Pietrzykowska, et al. · Healthcare · 3
Screening for Rare Mitochondrial Genome Variants Reveals a Potentially Novel Association between MT-CO1 and MT-TL2 Genes and Diabetes Phenotype
2024 · Tomasz Płoszaj, Sebastian Skoczylas, et al. · International Journal of Molecular Sciences · 3
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Mitochondrial DNA variants revealed by whole exome sequencing: from screening to diagnosis and follow-up
2025 · Sebastian Skoczylas, Tomasz Płoszaj, et al. · Neurogenetics · 2
Multi-matrix metabolomics in rare monogenic diabetes syndromes: Analysis of oral fluids and serum in carriers of pathogenic variants in the ALMS1/BBS genes
2025 · Ewa Zmysłowska-Polakowska, Patrycja Mojsak, et al. · Computational and Structural Biotechnology Journal · 2
Can the MT-CO2 gene surprise us with something? – A review of variants considered as pathogenic by identifying conserved sites
2023 · S. Skoczylas, T. Płoszaj, et al. · Ecological Genetics and Genomics · 2
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families
2023 · S. Skoczylas, P. Jakiel, et al. · Neurogenetics · 2
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Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients
2026 · Tomasz Płoszaj, Sebastian Skoczylas, et al. · Acta Diabetologica · 1
Insights into INS Gene Variation from Seven Years of Monogenic Diabetes Testing—Novel Genetic Variants and Their Clinical Implications
2026 · Tomasz Płoszaj, Patrycja Mojsak, et al. · Applied Sciences · 1
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The Clinical Spectrum and Significance of ABCC8 Gene Variants in the Diagnosis of Monogenic Diabetes
2026 · Natalia Kapelan, Piotr Tust, et al. · Diabetology
Unrecognized mitochondrial diabetes cases in a group of patients with type 2 diabetes
2026 · Sebastian Skoczylas, Tomasz Płoszaj, et al. · Acta Diabetologica
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Selected Brain Metabolites and Mitochondrial DNA Copy Number as Potential Markers of Ongoing Neurodegeneration in Patients with Wolfram Syndrome
2026 · Ewa Zmysłowska-Polakowska, Tomasz Płoszaj, et al. · Metabolites
Integrated Oral Microbiome and Metabolome Profiling Identifies Disease-Associated Multi-Omics Signatures in Alström and Bardet–Biedl Syndromes
2026 · Patrycja Mojsak, Ewa Zmyslowska-Polakowska, et al. · Computational and Structural Biotechnology Journal
Germline BRCA1/2 Variants in Polish Patients with Family History of Breast and Ovarian Cancer: Prevalence, CNV Detection, and Identification of a Novel Loss-of-Function Mutation
2025 · Sebastian Skoczylas, Tomasz Płoszaj, et al. · Current Oncology
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Impact of CARD14 rs34367357 Mutation, Nutrition Status, and Seasonality on the Response to Biologic Therapy in Psoriasis—A Retrospective Observational Single-Center Study
2025 · Michał Niedźwiedź, Agnieszka Czerwińska, et al. · Journal of Clinical Medicine
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Works count: 21
Citation count: 61
H-index: 4
I10-index: 1
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