Yayınlar & Eserler

Yayın Ağı
Makaleler 31
Tümü (31)
SCI-E, SSCI, AHCI (31)
SCI-E, SSCI, AHCI, ESCI (31)
Scopus (31)
TRDizin (1)

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) identifier identifier

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) identifier identifier identifier

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) identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) identifier identifier

6. 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) identifier identifier identifier

7. 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) identifier

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) identifier

9. 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 identifier identifier identifier

10. 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 , sa.11, ss.2287-2294, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier

11. 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) identifier identifier identifier

12. 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 identifier identifier identifier

13. 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) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

14. 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) identifier

15. 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) Creative Commons License identifier

16. 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) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

17. 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) identifier identifier identifier

18. 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) identifier identifier identifier

19. 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) identifier identifier identifier identifier

20. 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) Creative Commons License identifier identifier identifier

21. 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) identifier identifier identifier identifier

22. 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) identifier identifier identifier identifier

23. 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) identifier identifier identifier

24. 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) identifier identifier identifier identifier

25. 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) identifier identifier identifier identifier

26. 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) identifier identifier identifier identifier

27. 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) identifier identifier identifier identifier

28. 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) identifier identifier identifier identifier

29. 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) identifier identifier identifier identifier

30. 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) identifier identifier identifier

31. 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) identifier identifier identifier
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 2

1. 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) identifier

2. 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