Prof. Dr. ÖZDEN HATIRNAZ NG

1. Identification of nonsense variants in the ATM gene mimicking SCID phenotype: a brief report

FIRTINA S., Saritas M., Ng Y. Y., Nepesov S., KIYKIM A., Bozkurt S., et al.

Immunologic Research , cilt.73, sa.1, 2025 (SCI-Expanded, Scopus)

2. Clinical management of three JMML siblings with germline CBL variation

Agaoglu N. B., Yalcın K., Unal B., Onder G., Celen S. S., Zhumatayev S., et al.

Cancer Genetics , cilt.292-293, ss.120-123, 2025 (SCI-Expanded, Scopus)

3. Managing CDH1 Cancer Risks in a Child: Complex Decision Making in a Family With Hereditary Diffuse Gastric Cancer

Agaoglu N. B., HATIRNAZ NG Ö., Zemheri I. E., Unal B., Gerenli N., Tosun I., et al.

American Journal of Medical Genetics, Part A , cilt.197, sa.2, 2025 (SCI-Expanded, Scopus)

4. Status of IKZF1 Deletions in Diagnose and Relapsed Pediatric B-ALL Patients.

Erbilgin Y., Firtina S., Kirat E., Khodzhaev K., Karakas Z., Ünüvar A., et al.

Biochemical genetics , 2025 (SCI-Expanded, Scopus)

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

Ozkose G. S., TOPÇU Y., Ay B., ÖZDEMİR Ö., AKGÜN DOĞAN Ö., HATIRNAZ NG Ö., et al.

Clinical Genetics , 2025 (SCI-Expanded, Scopus)

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)

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)

8. Long-term immunological changes after corrective cardiac surgery

BİLGİÇ ELTAN S., Amirov R., Babayeva R., Altunbas M. Y., Karakurt T., CAN S., et al.

SCANDINAVIAN JOURNAL OF IMMUNOLOGY , cilt.100, sa.6, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

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 , ss.1172, 2024 (SCI-Expanded, Scopus)

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

11. **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

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. Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients

Agaoglu N. B., Unal B., Hayes C. P., Walker M., HATIRNAZ NG Ö., Doganay L., et al.

CANCER MEDICINE , cilt.13, sa.3, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

14. Memantine and SKF82958 but not an enriched environment modulate naloxone-precipitated morphine abstinence syndrome without affecting hippocampal tPA mRNA levels in rats

Aslan A., Hatirnaz-Ng Ö., Tasar O., Ozbek U., Yamanturk-Celik P.

PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR , cilt.234, 2024 (SCI-Expanded, Scopus)

15. A new line method; A direct test in spinal muscular atrophy screening for DBS

Kubar A., Temel S. G., Beken S., Onder G., Hatirnaz Ö., Korkmaz A., et al.

Molecular Genetics and Genomic Medicine , cilt.11, sa.12, 2023 (SCI-Expanded, Scopus)

16. Perception and management of cancer predisposition in pediatric cancer centers: A European-wide questionnaire-based survey

Lazic J., Haas O. A., Özbek U., Ripperger T., Byrjalsen A., Te Kronnie G., et al.

Pediatric Blood and Cancer , cilt.70, sa.5, 2023 (SCI-Expanded, Scopus)

17. Impact of TP53 gene variants on prognosis and survival of childhood acute lymphoblastic leukemia.

Firtina S., Erbilgin Y., Hatirnaz Ng Ö., Karaman S., Karakas Z., Celkan T. T., et al.

Scandinavian journal of clinical and laboratory investigation , cilt.83, sa.3, ss.187-193, 2023 (SCI-Expanded, Scopus)

18. 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)

19. Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family

Agaoglu N. B., HATIRNAZ NG Ö., Unal B., AKGÜN DOĞAN Ö., Amanvermez U., Yildiz J., et al.

CANCER GENETICS , cilt.268-269, ss.128-136, 2022 (SCI-Expanded, Scopus)

20. Tackling TKI resistance in AML: A commentary on "Inhibition of BCL2A1 by STAT5 inactivation overcomes resistance to targeted therapies of FLT3-ITD/D835 mutant AML." by Yamatani et al.

Hatırnaz Ng Ö., Eşkazan A. E.

Translational oncology , cilt.19, ss.101394, 2022 (SCI-Expanded, Scopus)

21. Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls

Senturk G., Ng Y. Y., Eltan S. B., Baser D., Ogulur I., Altindirek D., et al.

SCANDINAVIAN JOURNAL OF IMMUNOLOGY , cilt.95, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

22. Primary antibody deficiencies in Turkey: molecular and clinical aspects

Firtina S., Ng Y. Y., HATIRNAZ NG Ö., Kiykim A., Ozek E. Y., Kara M., et al.

IMMUNOLOGIC RESEARCH , cilt.70, sa.1, ss.44-55, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

23. Zinc finger protein 384 (ZNF384) impact on childhood mixed phenotype acute leukemia and B-cell precursor acute lymphoblastic leukemia

Sudutan T., ERBİLGİN Y., HATIRNAZ NG Ö., KARAMAN S., KARAKAŞ Z., Kucukcankurt F., et al.

LEUKEMIA & LYMPHOMA , cilt.63, sa.12, ss.2931-2939, 2022 (SCI-Expanded, Scopus)

24. 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)

25. Prognostic evidence of LEF1 isoforms in childhood acute lymphoblastic leukemia.

ERBİLGİN Y., Ng Ö., Can I., Firtina S., Kucukcankurt F., KARAMAN S., et al.

International journal of laboratory hematology , cilt.43, sa.5, ss.1093-1103, 2021 (SCI-Expanded, Scopus)

26. Gamma-irradiated SARS-CoV-2 vaccine candidate, OZG-38.61.3, confers protection from SARS-CoV-2 challenge in human ACEII-transgenic mice.

Turan R. D., Tastan C., Kancagi D. D., Yurtsever B., Karakus G. S., Ozer S., et al.

Scientific reports , cilt.11, sa.1, ss.15799, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

27. Preclinical efficacy and safety analysis of gamma-irradiated inactivated SARS-CoV-2 vaccine candidates

Sir Karakus G., Tastan C., Dilek Kancagi D., Yurtsever B., Tumentemur G., Demir S., et al.

SCIENTIFIC REPORTS , cilt.11, sa.1, 2021 (SCI-Expanded, Scopus)

28. Mutational landscape of severe combined immunodeficiency patients from Turkey

Çekiç Ş., Ng Y. Y., Ng Ö., Kıykım A., Özen A. O., Özen A. O., et al.

INTERNATIONAL JOURNAL OF IMMUNOGENETICS , cilt.47, sa.6, ss.529-538, 2020 (SCI-Expanded, Scopus)

29. The potential protective roles of zinc, selenium and glutathione on hypoxia-induced TRPM2 channel activation in transfected HEK293 cells

Ergun D. D., Dursun S., PASTACI ÖZSOBACI N., HATIRNAZ NG Ö., NAZIROĞLU M., ÖZÇELİK D.

JOURNAL OF RECEPTORS AND SIGNAL TRANSDUCTION , cilt.40, sa.6, ss.521-530, 2020 (SCI-Expanded, Scopus)

30. Copy-number variations in adult patients with chronic immune thrombocytopenia.

YÜCESAN E., Ng Ö., Yalniz F. F., Yilmaz H., SALİHOĞLU A., Sudutan T., et al.

Expert review of hematology , cilt.13, sa.11, ss.1277-1287, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

31. Hydrogen Sulphide and Nitric Oxide Cooperate in Cardioprotection Against Ischemia/Reperfusion Injury in Isolated Rat Heart.

ÜSTÜNOVA S., TAKIR S., YILMAZER N., Bulut H., ALTINDİREK D., HATIRNAZ NG Ö., et al.

In vivo (Athens, Greece) , cilt.34, sa.5, ss.2507-2516, 2020 (SCI-Expanded, Scopus)

35. Deep sequencing of BCR-ABL1 kinase domain mutations in chronic myeloid leukemia patients with resistance to tyrosine kinase inhibitors.

ERBİLGİN Y., Eskazan A. E., HATIRNAZ NG Ö., SALİHOĞLU A., ELVERDİ T., Firtina S., et al.

Leukemia & lymphoma , cilt.60, sa.1, ss.200-207, 2019 (SCI-Expanded)

36. Kronik Myeloid Lösemide BCR-ABL Füzyon Transkriptinin Eş Zamanlı PCR ile Kantitasyonu İçin Referans Plazmid Oluşturulması

NG Y. Y., Yılmaz Z. H., HATIRNAZ NG Ö., SAYİTOĞLU M.

Deneysel Tıp Araştırma Enstitüsü Dergisi , cilt.7, sa.13, ss.93-100, 2017 (Hakemli Dergi)

40. First Steps of the Genetic Monitorization in Primary Immune Deficiencies in the Lead of Prof. Dr. Işil Barlan in Turkey

Ng Y. Y., Şişko S., Hatırnaz Ng Ö., Çatal Tatonyan S., Sever Kaya D., Fırtına S., et al.

Turkish Journal of Immunology , cilt.3, sa.2, ss.47, 2015 (Scopus, TRDizin)

41. First Steps of the Genetic Monitorization in Primary Immune Deficiencies in the Lead of Prof. Dr. Isil Barlan in Turkey

Ng Y. Y., Sisko S., HATIRNAZ NG Ö., Tatonyan S. C., ŞATANA D., FIRTINA S., et al.

TURKISH JOURNAL OF IMMUNOLOGY , sa.2, ss.47, 2015 (ESCI, Scopus)

47. Upregulation of T-Cell-Specific Transcription Factor Expression in Pediatric T-Cell Acute Lymphoblastic Leukemia (T-ALL)

SAYİTOĞLU M., ERBİLGİN Y., HATIRNAZ NG Ö., Yildiz I., Celkan T., Anak S., et al.

TURKISH JOURNAL OF HEMATOLOGY , cilt.29, sa.4, ss.325-333, 2012 (SCI-Expanded, Scopus, TRDizin)

48. AKUT LÖSEMİ HÜCRE SERİLERİNDE BETA KATENİN siRNA UYGULAMALARI

HATIRNAZ NG Ö., ERBİLGİN Y., AKTAŞ E., DENİZ G., ÖZBEK U., SAYİTOĞLU M.

DENEYSEL TIP DERGİSİ , cilt.2, sa.3, ss.16-22, 2012 (Hakemli Dergi)

49. Genetic alterations in members of the Wnt pathway in acute leukemia

Erbilgin Y., Ng Ö., Mavi N., Ozbek U., Sayitoglu M.

Leukemia and Lymphoma , cilt.53, sa.3, ss.508-510, 2012 (SCI-Expanded, Scopus)

50. BETA KATENİN VE AXIN2 PROTEİNLERİ ETKİLEŞİMLERİNİN PROKSİMİTİ LİGASYON ASSAY YAKINSAL BAĞLANMA TESPİTİ ILE GÖRÜNTÜLENMESİ

ERBİLGİN Y., HATIRNAZ NG Ö., SAYİTOĞLU M., SÖDERBERG O., ÖZBEK U.

DENEYSEL TIP DERGİSİ , cilt.1, sa.2, ss.24-27, 2011 (Hakemli Dergi)

Yayınlar & Eserler