Yayınlar & Eserler

Yayın Ağı
Makaleler 36
Tümü (36)
SCI-E, SSCI, AHCI (28)
SCI-E, SSCI, AHCI, ESCI (35)
ESCI (7)
Scopus (36)
TRDizin (4)

1. Neonatal-onset genetic epilepsies: Insights from a large multicentre cohort

Basarir G., Gençpınar P., Bozkaya Yılmaz S., ÖZYILMAZ B., Olgaç Dündar N., TÜRKDOĞAN D., et al.
Seizure , cilt.139, ss.101-109, 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. A novel sporadic sodium channel mutation in a young adult patient with paramyotonia congenita

Kale M. Y., ÖZYILMAZ B., Seymen Y., Caliskan A. S.
Turk Noroloji Dergisi , cilt.32, sa.1, ss.95-98, 2026 (ESCI, Scopus)

5. Clinical and Genetic Spectrum of RYR1-Related Disease

SARIKAYA UZAN G., ÖZYILMAZ B., Doğan G., Baydan F., Güzin Y., Gençpınar P., et al.
Molecular Syndromology , cilt.17, sa.1, ss.34-42, 2026 (SCI-Expanded, Scopus)

6. Genetic and Clinical Determinants of Chronic Thromboembolic Pulmonary Hypertension: The Role of PAI-1 Polymorphism

BATUM Ö., AYIK TÜRK M., VAROL Y., ÖZYILMAZ B., Akarçay A. E., Dirican N., et al.
International Journal of Molecular Sciences , cilt.27, sa.2, 2026 (SCI-Expanded, Scopus)

7. 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)

8. A Comprehensive Perspective on Febrile Seizures in Children: A Prospective Cohort Study with Evaluation of Clinical, Laboratory, and Genetic Features

Yalçın G., Yıldırım R., Unal E., Cebeci D., Ersen A., ÖZYILMAZ B., et al.
Journal of Clinical Medicine , cilt.14, sa.22, 2025 (SCI-Expanded, Scopus) Creative Commons License

9. Beyond the Copy Number Differences: The Phenotypic Diversity of Children With 15q11.2 Microdeletions and Microduplications

Basarir G., Erdogan I., ÖZYILMAZ B., Gencpinar P., Dundar N. O.
Journal of Child Neurology , cilt.40, sa.9 Special Issue: Diversity in Child Neurology, ss.784-793, 2025 (SCI-Expanded, Scopus)

10. Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience

Kale M. Y., KORKMAZ H. A., ÖZYILMAZ B., Taşkın A. Ç., Boluk E.
European Journal of Paediatric Neurology , cilt.58, ss.64-73, 2025 (SCI-Expanded, Scopus)

11. Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients

AKINCI G., ÖZYILMAZ B., ÖZTÜRK G., Komur M., Onel E., Ardicli D., et al.
Neuromuscular Disorders , cilt.53, 2025 (SCI-Expanded, Scopus)

12. 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)

13. Prenatal Findings and Perinatal Outcomes of Rare Autosomal Trisomies: A Retrospective Cohort Study

Tuncer Can S., Golbasi H., Bayraktar B., ÖZYILMAZ B., Omeroglu I., Torun R., et al.
Fetal and Pediatric Pathology , cilt.44, sa.4, ss.357-371, 2025 (SCI-Expanded, Scopus)

14. 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)

15. Evaluation of microRNA expression levels during the craving period of patients diagnosed with severe alcohol use disorder

AŞÇIBAŞI K., DEVECİ A., ÖZYILMAZ B., Erdoğan K. M., Çakıroğlu E.
Journal of Substance Use , cilt.29, sa.5, ss.764-769, 2024 (SSCI, Scopus)

16. Assessment of mimicking by EBV-CMV immunoglobulin M of anti-HLA antibodies

Güleç R. D., Arslan F. D., ÖZYILMAZ B., YILMAZ N., Hancı S. Y., KÖSE Ş.
Journal of Immunological Methods , cilt.523, 2023 (SCI-Expanded, Scopus)

17. Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are EFNB1 Variants Associated with Autoimmunity?

Güneş S., Wu J., ÖZYILMAZ B., Deveci Sevim R., Ünüvar T., Anık A.
Pharmaceuticals , cilt.15, sa.12, 2022 (SCI-Expanded, Scopus) Creative Commons License

18. ALK, ROS1 and EGFR status of lung cancers in the Aegean Region of Turkey

Diniz G., KÖMÜRCÜOĞLU B., ÖZYILMAZ B., Ozguzer A., Yucel N., Kirbiyik O.
Indian Journal of Pathology and Microbiology , cilt.65, sa.2, ss.305-310, 2022 (SCI-Expanded, Scopus)

19. 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)

20. The Histopathologic Examination of a Second Muscle Biopsy Specimen at a Later Date may Sometimes be the Best Approach to Make a Differential Diagnosis in Neuromuscular Disorders

Diniz G., ÖZYILMAZ B., Gokben S.
Turk Patoloji Dergisi , cilt.38, sa.1, ss.79-81, 2022 (ESCI, Scopus, TRDizin)

21. Association Between Interleukin 1 Beta (IL-1β) Gene Variation and Temporal Lobe Epilepsy with Hippocampal Sclerosis Interlökin 1 Beta (IL-1β) Gen Varyasyonu ile Hippokampal Sklerozlu Temporal Lob Epilepsisi İlişkisi

SARITEKE A., ULUDAĞ İ. F., ÖZYILMAZ B., Zorlu Y., ŞENER U., Tokuçoğlu F.
Turk Noroloji Dergisi , cilt.27, sa.4, ss.390-393, 2021 (ESCI, Scopus, TRDizin)

22. Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants

Hazan F., GÜRSOY S., ÜNALP A., YILMAZ Ü., Demirağ B., AYDIN ASLANTAŞ S., et al.
Neurological Sciences , cilt.42, sa.5, ss.2045-2057, 2021 (SCI-Expanded, Scopus)

23. JAK2V617F, CALR and MPL515L/K mutations and plateletcrit in essential thrombocythemia: A single centre's experience

CEYLAN C., ÖZYILMAZ B., Kirbiyik O., Ugur M. C., Ozer O.
International Journal of Clinical Practice , cilt.75, sa.4, 2021 (SCI-Expanded, Scopus)

24. 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)

25. Evaluation of clinical, laboratory and genetic results of patients who examined with a pre-diagnosis of monogenic obesity Monogenik obezite ön tanısı ile incelenen hastaların klinik, laboratuvar ve genetik sonuçlarının değerlendirilmesi

Ayrancı İ., Çatlı G., Filibeli B. E., Yiğit E., ÖZYILMAZ B., Manyas H., et al.
Guncel Pediatri , cilt.19, sa.1, ss.52-59, 2021 (ESCI, Scopus)

26. Different clinical faces of the same gene mutation: Fragile x mental retardation 1 disorders Aynı gendeki mutasyonların farklı yüzleri, fmr1 ilişkili hastalıklar

Asma B., ÖZYILMAZ B., Uyaroğlu F. G.
Turk Noroloji Dergisi , cilt.27, sa.3, ss.340-342, 2021 (ESCI, Scopus, TRDizin)

27. 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)

28. Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy

GÜRSOY S., Ataman E., Baysal B., ÖZYILMAZ B., Gençpinar P., HIZ A. S., et al.
Annals of Indian Academy of Neurology , cilt.23, sa.2, ss.206-210, 2020 (SCI-Expanded, Scopus)

29. 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)

30. 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)

31. 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)

32. 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)

33. 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)

34. 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)

35. Correlation of phenotype with the CYP21 gene mutation analysis of classic type congenital adrenal hyperplasia due to 21-hydroxylase deficiency

ÖZYILMAZ B., Aydın M., Ogur G.
Journal of Experimental and Clinical Medicine (Turkey) , cilt.35, sa.3, ss.63-69, 2018 (Scopus)

36. 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)
Kitaplar 4

1. Genetic Overview of Esophageal Cancer

ÖZYILMAZ B., ÖZDEMİR T. R.
Risk Factors and Therapy of Esophagus Cancer, Springer Nature, ss.59-69, 2024

2. A Quick Glance at the Therapeutic Approaches for Neuromuscular Disorders

Diniz G., Düzenli N., Ertem O., ÖZYILMAZ B.
Clues for Differential Diagnosis of Neuromuscular Disorders, Springer International Publishing Ag, ss.329-344, 2023

3. Molecular Diagnostic Procedures and Genetics in Neuromuscular Disorders

ÖZYILMAZ B., Diniz G.
Clues for Differential Diagnosis of Neuromuscular Disorders, Springer International Publishing Ag, ss.95-102, 2023

4. Genetic knowledge of colorectal cancer

Kirbiyik O., ÖZYILMAZ B.
Colon Polyps and Colorectal Cancer: Second Edition, Springer International Publishing Ag, ss.481-514, 2020
Metrikler

Yayın

40

Yayın (WoS)

35

Yayın (Scopus)

40

H-İndeks (WoS)

7

Atıf (Scopus)

160

H-İndeks (Scopus)

8

Atıf (TrDizin)

2

H-İndeks (TrDizin)

1

Atıf (Diğer Toplam)

2

Proje

1

Açık Erişim

2