Prof. Dr. Taha Reşid ÖZDEMİR

1. Is Unidentified Cytopenia Truly Unidentified? Or Are We Overlooking Clonality?

Erdogan Yucel E., Bulbul Dilmen H., Ozer Kaya O., Narli Ozdemir Z., Kakci M., Celik B., et al.

Medicina (Lithuania) , cilt.62, sa.5, 2026 (SCI-Expanded, Scopus)

2. Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience

Erdoğan K. M., AKCAN M. B., Yazıcı H., ÖZYILMAZ B., ÖZDEMİR T. R., Kaya Ö. Ö., et al.

Annals of Human Genetics , cilt.90, sa.3, ss.145-154, 2026 (SCI-Expanded, Scopus)

3. Symptom-based classification of 16p11.2 copy number variations underlying the multidimensional autism spectrum disorder phenotype using machine learning methods

Bolat H., Ünsel-bolat G., Bulut E., Özgül S., Turan D. S., Çeli̇k S., et al.

Research in Autism , cilt.132, 2026 (SSCI, Scopus)

4. Dental Anomalies in a Pediatric Patient with 16p13.11 Recurrent Microdeletion Syndrome: A Case Report 16p13.11 Rekürrent Mikrodelesyon Sendromlu Çocuk Hastada Dental Anomaliler: Olgu Sunumu

Aksoy H., ERTUĞRUL F., ÖZDEMİR T. R.

Journal of Behcet Uz Children's Hospital , cilt.16, sa.1, ss.77-82, 2026 (ESCI, Scopus, TRDizin)

5. Clinical and Genetic Heterogeneity of Congenital Myasthenic Syndromes: Insights From a Large Cohort

ÖZYILMAZ B., ÖZDEMİR T. R., Koc A., Kirbiyik O., Ozer O. K., Erdogan K. M., et al.

Neurology and Clinical Neuroscience , cilt.14, sa.1, ss.33-45, 2026 (ESCI, Scopus)

6. Clinical and Pathological Characteristics of Breast Cancer Cases with Germline Alterations in Homologous Recombination Defect-associated Genes

Keser M., Özer Kaya Ö., ÖZDEMİR T. R., PALA E. E., ÜNAL O. Ü., Kubat G.

Acta Haematologica Oncologica Turcica , cilt.58, sa.3, ss.226-231, 2025 (Scopus, TRDizin)

7. Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants

ÖZDEMİR T. R., Gençpinar P., Sariteke R., Dagdas S. M., HASPOLAT Ş., Tiftikcioglu B. I., et al.

Annals of Indian Academy of Neurology , cilt.28, sa.3, ss.353-362, 2025 (SCI-Expanded, Scopus)

8. Germline ATM Variation in a Young Patient Diagnosed with Breast Cancer Presenting with Vaginal Neuroendocrine Carcinoma

Kahraman E. G., Akay S., PALA E. E., ÖZDEMİR T. R., ÜNAL O. Ü.

Journal of Oncological Science , cilt.11, sa.1, ss.58-62, 2025 (Scopus, TRDizin)

9. Association between fetal fraction of cell-free DNA and adverse pregnancy outcomes

Golbasi H., Bayraktar B., Golbasi C., Omeroglu I., Adiyaman D., Alkan K. O., et al.

Archives of Gynecology and Obstetrics , cilt.310, sa.2, ss.1037-1048, 2024 (SCI-Expanded, Scopus)

10. The Histopathological Findings of High-grade Serous Ovarian Carcinomas in Patients with BRCA Germline Mutations, Single Center Experience BRCA Germline Mutasyonu Olan Hastalarda Yüksek Dereceli Seröz Over Karsinomlarının Histopatolojik Özellikleri; Tek Merkez Deneyimi

Aköz G., Kaya Ö. Ö., ÖZDEMİR T. R., Çakır İ., Talu C. K.

Anatolian Journal of General Medical Research , cilt.34, sa.1, ss.50-56, 2024 (Scopus, TRDizin)

11. Prognostic and predictive role of liquid biopsy in lung cancer patients

Goksel T., Özgür S., Vardarlı A. T., Koç A., Karakuş H. S., ÖZDEMİR T. R., et al.

Frontiers in Oncology , cilt.13, 2023 (SCI-Expanded, Scopus)

12. Experiences in the molecular genetic and histopathological evaluation of calpainopathies

ÖZYILMAZ B., Kirbiyik O., ÖZDEMİR T. R., Ozer O. K., Kutbay Y. B., ERDOĞAN K., et al.

Neurogenetics , cilt.23, sa.2, ss.103-114, 2022 (SCI-Expanded, Scopus)

13. The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum

Kose M., Isik E., Aykut A., Durmaz A., KÖSE E., Ersoy M., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.34, sa.4, ss.417-430, 2021 (SCI-Expanded, Scopus)

14. Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey

Kose M., KÖSE E., ÜNALP A., YILMAZ Ü., Edizer S., Tekin H. G., et al.

Neurological Sciences , cilt.42, sa.3, ss.1103-1111, 2021 (SCI-Expanded, Scopus)

15. The relation between distant metastasis and genetic change type in stage IV lung adenocarcinoma patients at diagnosis

Ermin S., BATUM Ö., Saka Güvenç M., Diniz G., Ayrancı A., Erdoğan K. M., et al.

Clinical Respiratory Journal , cilt.15, sa.2, ss.196-202, 2021 (SCI-Expanded, Scopus)

16. SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

Kose M., Canda E., Kagnici M., Aykut A., Adebali O., Durmaz A., et al.

Molecular Genetics and Metabolism Reports , cilt.25, 2020 (SCI-Expanded, Scopus)

17. Topiramate-Responsive Tremor in a Novel Pathogenic Variant of SPG15 Patient

Ersen A., Gençpinar P., Arican P., Bozkaya Yilmaz S., Aliyeva N., ÖZDEMİR T. R., et al.

Clinical Neuropharmacology , cilt.43, sa.4, ss.121-122, 2020 (SCI-Expanded, Scopus)

18. A case of late-onset hyperinsulinemic hypoglycemia: HNF4A mutation

Arslan G., Acar S., ÖZDEMİR T. R., NALBANTOĞLU Ö., Kırbıyık Ö., Köprülü Ö., et al.

Journal of Pediatric Research , cilt.7, sa.2, ss.168-171, 2020 (ESCI, Scopus, TRDizin)

19. Evaluation of chromosomal abnormalities and y-chromosome microdeletions in 1696 turkish cases with primary male infertility: A single-center study

ÖZDEMİR T. R., ÖZYILMAZ B., Çakmak Ö., Kaya Ö. Ö., Köse C., Kırbıyık Ö., et al.

Turkish Journal of Urology , cilt.46, sa.2, ss.95-100, 2020 (ESCI, Scopus, TRDizin)

20. A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene

ÖZDEMİR T. R., Gençpınar P., ARICAN P., Öztekin Ö., Dündar N. O., ÖZYILMAZ B.

International Journal of Neuroscience , cilt.129, sa.12, ss.1198-1202, 2019 (SCI-Expanded, Scopus)

21. Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes

ÖZYILMAZ B., Kirbiyik O., Koc A., ÖZDEMİR T. R., Kaya Ozer O., Kutbay Y. B., et al.

International Journal of Immunogenetics , cilt.46, sa.4, ss.232-240, 2019 (SCI-Expanded, Scopus)

22. Targeted fetal cell-free DNA screening for aneuploidies in 4,594 pregnancies: Single center study

Koc A., Ozer Kaya O., ÖZYILMAZ B., Kutbay Y. B., Kirbiyik O., ÖZDEMİR T. R., et al.

Molecular Genetics and Genomic Medicine , cilt.7, sa.7, 2019 (SCI-Expanded, Scopus)

23. A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance

Korkmaz O., Ozen S., ÖZDEMİR T. R., Goksen D., Darcan S.

Hormones , cilt.18, sa.2, ss.223-227, 2019 (SCI-Expanded, Scopus)

24. CfDNA in exhaled breath condensate (EBC) and contamination by ambient air: Toward volatile biopsies

Koc A., Goksel T., PELİT L., Korba K., Dizdas T. N., Baysal E., et al.

Journal of Breath Research , cilt.13, sa.3, 2019 (SCI-Expanded, Scopus)

25. Targeted next-generation sequencing of MLH1, MSH2, and MSH6 genes in patients with endometrial carcinoma under 50 years of age

ÖZDEMİR T. R., Alan M., SANCI M., Koç A.

Balkan Medical Journal , cilt.36, sa.1, ss.37-42, 2019 (SCI-Expanded, Scopus, TRDizin)

26. Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies

ÖZYILMAZ B., Kirbiyik Ö., ÖZDEMİR T. R., Kaya Özer Ö., Kutbay Y. B., ERDOĞAN K., et al.

Annals of Human Genetics , cilt.83, sa.5, ss.331-347, 2019 (SCI-Expanded, Scopus)

27. Fetal HLA-Galleles and their effect on miscarriage

Koc A., Kirbiyik O., Kutbay Y. B., ÖZYILMAZ B., ÖZDEMİR T. R., Kaya O. O., et al.

Advances in Clinical and Experimental Medicine , cilt.27, sa.9, ss.1233-1237, 2018 (SCI-Expanded, Scopus)

28. The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

Ozantürk A., Marshall J. D., Collin G. B., Düzenli S., Marshall R. P., Candan Ş., et al.

Journal of Human Genetics , cilt.60, sa.1, ss.1-9, 2015 (SCI-Expanded, Scopus)

Yayınlar & Eserler

Yayın

Yayın (WoS)

Yayın (Scopus)

H-İndeks (WoS)

Atıf (Scopus)

H-İndeks (Scopus)

Atıf (TrDizin)

H-İndeks (TrDizin)

Atıf (Diğer Toplam)

Proje

Tez Danışmanlığı

Açık Erişim