Dr. Öğr. Üyesi ÖZKAN ÖZDEMİR

Yayın Ağı

Makaleler 32

1. Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis

Ozkose G. S., Topçu Y., Ay B., Özdemir Ö., Akgün Doğan Ö., Hatirnaz Ng Ö., et al.

Clinical Genetics , cilt.109, sa.1, ss.149-154, 2026 (SCI-Expanded, Scopus)

2. Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report

AYDIN E., BULUT A., Yildiz B., Ozonur U., ÖZDEMİR Ö., BİLGÜVAR K., et al.

Journal of Child Neurology , 2026 (SCI-Expanded, Scopus)

3. Tonsillar Alpha-Synuclein Accumulation on Parkinson’s Disease

Sarıkaya C., Çalışkan S., ÖZDEMİR Ö., İşeri M., İşeri P.

Noropsikiyatri Arsivi , cilt.63, ss.232-234, 2026 (SCI-Expanded, Scopus, TRDizin)

4. Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches

Yigit A., AKGÜN DOĞAN Ö., ÖZKESERLİ Z., BAYRAM AKÇAPINAR G., Ayta S., Gencpinar P., et al.

Frontiers in Neurology , cilt.17, 2026 (SCI-Expanded, Scopus)

5. Clinical classification and molecular interpretation of germline pathogenic TP53 variations detected by multigene panel testing in patients with possible cancer predisposition

ÖNDER G., Unal B., ÖZDEMİR Ö., Amanvermez U., AÇIKEL ELMAS M., Gokbayrak M., et al.

Molecular Genetics and Genomics , cilt.300, sa.1, 2025 (SCI-Expanded, Scopus)

6. **A Novel Variant in GNB2 as a Cause of Sick Sinus Syndrome**

BULUT A., Saygili E. A., Pirli D., AYDIN E., ÖZDEMİR Ö., Balci N., et al.

CIRCULATION RESEARCH , cilt.137, sa.SUPPL_1, 2025 (SCI-Expanded, Scopus)

7. Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition

ÖNDER G., ÖZDEMİR Ö., Taylan F., CANPOLAT C., Yalcin K., Erbey F., et al.

Frontiers in Genetics , cilt.16, 2025 (SCI-Expanded, Scopus)

8. Statistical analysis of genomic in-silico pathogenicity predictors for the characterization of VUS in rare and undiagnosed disorders

AYDIN E., Ergun B., AKGÜN DOĞAN Ö., ALANAY Y., HATIRNAZ NG Ö., ÖZDEMİR Ö.

EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1172, 2024 (SCI-Expanded, Scopus)

9. Statistical analysis of genomic in-silico pathogenicity predictors for the characterization of VUS in rare and undiagnosed disorders

AYDIN E., Ergun B., AKGÜN DOĞAN Ö., ALANAY Y., HATIRNAZ NG Ö., ÖZDEMİR Ö.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.32, ss.1172, 2024 (SCI-Expanded, Scopus)

10. **Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Turkiye**

ÖZDEMİR Ö., Bychkovsky B. L., Unal B., ÖNDER G., Amanvermez U., AYDIN E., et al.

CANCERS , cilt.16, sa.22, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

11. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Delgado-Vega A. M., Cederroth H., Taylan F., Ekholm K., Ek M., Thonberg H., et al.

NATURE GENETICS , cilt.56, sa.11, ss.2287-2294, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

12. Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.

Guner Yilmaz B., Akgun-Dogan Ö., Ozdemir Ö., Yuksel B., Hatirnaz Ng Ö., Bilguvar K., et al.

Frontiers in pediatrics , cilt.12, ss.1412880, 2024 (SCI-Expanded, Scopus)

13. Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

Akgün Doğan Ö., Bengur E. T., Ay B., Ozkose G. S., Kar E., Bengur F. B., et al.

FRONTIERS IN GENETICS , cilt.15, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

14. Obstacles and expectations of rare disease patients and their families in Turkiye: ISTisNA project survey results

Hatirnaz Ng Ö., Sahin I., Erbilgin Y., Ozdemir Ö., Yucesan E., Erturk N., et al.

FRONTIERS IN PUBLIC HEALTH , cilt.10, 2023 (SCI-Expanded, SSCI, Scopus)

15. The Modulatory Action of C-Vx Substance on the Immune System in COVID-19.

Tahrali I., Akdeniz N., Yilmaz V., Kucuksezer U. C., Oktelik F. B., Ozdemir Ö., et al.

Emerging microbes & infections , ss.1-28, 2022 (SCI-Expanded, Scopus)

16. Immune modulation as a consequence of SARS-CoV-2 infection

GELMEZ M. Y., ÖKTELİK F. B., TAHRALI İ., YILMAZ V., KÜÇÜKSEZER U. C., AKDENİZ N., et al.

FRONTIERS IN IMMUNOLOGY , cilt.13, 2022 (SCI-Expanded, Scopus)

17. Mutational landscape of SARS-CoV-2 genome in Turkey and impact of mutations on spike protein structure.

Hatirnaz N., Akyoney S., Sahin I., Soykam H., Bayram A., Ozdemir Ö., et al.

PloS one , cilt.16, sa.12, 2021 (SCI-Expanded, Scopus)

18. The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.

Haryanyan G., Ozdemir Ö., Tutkavul K., Dervent A., Ayta S., Ozkara C., et al.

Journal of human genetics , cilt.66, sa.12, ss.1145-1151, 2021 (SCI-Expanded, Scopus)

19. Peripheral blood B cell subset ratios and expression levels of B cell-associated genes are altered in benign multiple sclerosis

Turkoglu R., YILMAZ V., ÖZDEMİR Ö., Akbayir E., Benbir G., Arsoy E., et al.

MULTIPLE SCLEROSIS AND RELATED DISORDERS , cilt.52, 2021 (SCI-Expanded, Scopus)

20. Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey

Daimagueler H., Akpulat U., Oezdemir Ö., YİŞ U., GÜNGÖR S., TALİM B., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.6, ss.1678-1690, 2021 (SCI-Expanded, Scopus)

21. Making sense of missense variants in TTN-related congenital myopathies

Rees M., Nikoopour R., Fukuzawa A., Kho A. L., Fernandez-Garcia M. A., Wraige E., et al.

ACTA NEUROPATHOLOGICA , cilt.141, sa.3, ss.431-453, 2021 (SCI-Expanded, Scopus)

22. Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours

Bamborschke D., Oezdemir Ö., Kreutzer M., Motameny S., Thiele H., Kribs A., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.1, ss.90-96, 2021 (SCI-Expanded, Scopus)

23. The genomic and clinical landscape of fetal akinesia

Pergande M., Motameny S., Oezdemir Ö., Kreutzer M., Wang H., Daimagueler H., et al.

GENETICS IN MEDICINE , cilt.22, sa.3, ss.511-523, 2020 (SCI-Expanded, Scopus)

24. Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

Wang H., Bayram A. K., Sprute R., ÖZDEMİR Ö., Cooper E., Pergande M., et al.

FRONTIERS IN NEUROSCIENCE , cilt.13, 2019 (SCI-Expanded, Scopus)

25. Identification of epilepsy related pathways using genome-wide DNA methylation measures: A trio-based approach

ÖZDEMİR Ö., Egemen E., UĞUR İŞERİ S. A., SEZERMAN O. U., BEBEK N., BAYKAL B., et al.

PLOS ONE , cilt.14, sa.2, 2019 (SCI-Expanded, Scopus)

26. Investigation of SLC2A1 gene variants in genetic generalized epilepsy patients with eyelid myoclonia

Altiokka-Uzun G., ÖZDEMİR Ö., Ugur-Iseri S., BEBEK N., Gurses C., ÖZBEK U., et al.

EPILEPTIC DISORDERS , cilt.20, sa.5, ss.396-400, 2018 (SCI-Expanded, Scopus)

27. SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey

YÜCESAN E., UĞUR İŞERİ S. A., BİLGİÇ B., Gormez Z., GÜNGÖR B., Sarac A., et al.

NEUROLOGICAL SCIENCES , cilt.38, sa.12, ss.2203-2207, 2017 (SCI-Expanded, Scopus)

28. Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation

Kesim Y. F., Uzun G. A., YÜCESAN E., TUNCER KILINÇ F. N., ÖZDEMİR Ö., BEBEK N., et al.

EPILEPSY RESEARCH , cilt.120, ss.73-78, 2016 (SCI-Expanded, Scopus)

29. Expression changes of genes associated with apoptosis and survival processes in Parkinson's disease

Yalcinkaya N., Haytural H., BİLGİÇ B., ÖZDEMİR Ö., Hanagasi H., KÜÇÜKALİ C. İ., et al.

NEUROSCIENCE LETTERS , cilt.615, ss.72-77, 2016 (SCI-Expanded, Scopus)

30. Investigation of the possible association of NEDD4-2 (NEDD4L) gene with idiopathic photosensitive epilepsy

Vanli-Yavuz E. N., ÖZDEMİR Ö., Demirkan A., Catal S., BEBEK N., ÖZBEK U., et al.

ACTA NEUROLOGICA BELGICA , cilt.115, sa.3, ss.241-245, 2015 (SCI-Expanded, Scopus)

31. A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

Hallmann K., Zsurka G., Moskau-Hartmann S., Kirschner J., Korinthenberg R., Ruppert A., et al.

NEUROLOGY , cilt.83, sa.23, ss.2183-2187, 2014 (SCI-Expanded, Scopus)

32. Bromodomain-containing protein 2 gene in photosensitive epilepsy.

Yavuz E. N., Ozdemir Ö., Catal S., Bebek N., Ozbek U., Baykan B.

Seizure , cilt.21, sa.8, ss.646-8, 2012 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 7

1. Refining MGPT accuracy: a new scoring algorithm validated on BRCA1 primers

Hatırnaz Ng Ö., Özdemir Ö.

European Human Genetics Conference, Milan, İtalya, 24 - 25 Mayıs 2025, ss.1, (Özet Bildiri)

2. **Refining MGPT accuracy: a new scoring algorithm validated on BRCA1 primers**

AKKUŞ A., Uyanik R. C., Agaoglu N. B., ÖZDEMİR Ö., HATIRNAZ NG Ö.

58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan, İtalya, 24 - 27 Mayıs 2025, cilt.33, ss.434-435, (Özet Bildiri)

3. UDP-IST: First Undiagnosed Disease Program in Istanbul - Insights from Early Outcomes

AKGÜN DOĞAN Ö., ÖZDEMİR Ö., Ozkose-Iyigel G. S., BULUT A., AYDIN E., Gunay H., et al.

58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan, İtalya, 24 - 27 Mayıs 2025, cilt.33, ss.919-920, (Özet Bildiri)

4. Homozygous ATR variation in T-cell leukemia and T-cell lymphoma siblings in the absence of dysmorphic features

ÖNDER G., Dogru O., Gurcan S. A., ÖZDEMİR Ö., Ergun B., Yalcin K., et al.

58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan, İtalya, 24 - 27 Mayıs 2025, cilt.33, ss.149, (Özet Bildiri)

5. Unveiling the genetic diversity of cerebral palsy mimics using trio-WES in the Turkish cohort

Yigit A., AKGÜN DOĞAN Ö., BAYRAM AKÇAPINAR G., ÖZKESERLİ Z., Ayta S., HATIRNAZ NG Ö., et al.

57th Conference of the European-Society-of-Human-Genetics (ESHG), Berlin, Almanya, 1 - 04 Haziran 2024, cilt.32, ss.1503, (Özet Bildiri)

6. Statistical Analysis of Genomic in-silico Pathogenicity Predictors

Aydin E., Ergun B., HATIRNAZ NG Ö., ÖZDEMİR Ö.

56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.652, (Özet Bildiri)

7. KALITSAL KANSERLERDE KLİNİK ÖNEMİ BİLİNMEYEN GENOMİK VARYANTLARIN FONKSİYONEL KARAKTERİZASYONU VE SINIFLANDIRILMASI

Üstün Yılmaz S., Özdemir Ö., AĞAOĞLU N. B., HATIRNAZ NG Ö., MÜFTÜOĞLU M., ÖZBEK U.

8.TÜRK TIBBİ ONKOLOJİ KONGRESİ, Antalya, Türkiye, 3 - 07 Kasım 2021, (Tam Metin Bildiri) Sürdürülebilir Kalkınma

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