Prof. Dr. Özge ÖZALP

1. Broadening the Clinical and Molecular Spectrum of BAP1 Tumor Predisposition Syndrome: Findings from the First Reported Turkish Cohort

DURMAZ ÖZDİNÇ C. D., Taşdelen E., KINDIŞ E., Baltacı H. N. C., KOÇ İ., Bulut N. S., et al.

Acta Haematologica Oncologica Turcica , cilt.58, sa.3, ss.232-239, 2025 (Scopus, TRDizin)

2. Phenotypic Divergence in Siblings with the Same Genotype: Diffuse Dermal Melanocytosis in Infantile-Onset Galactosialidosis

Gürbüz B. B., ÖZALP Ö.

Molecular Syndromology , cilt.17, sa.4, ss.409-416, 2025 (SCI-Expanded, Scopus)

3. Carbapenem-resistant Providencia spp.: the threat at the door

ÖZALP Ö., Ortakci B., Komec S., Gokce O., Alp E., AYDIN Ö. C.

Journal of Hospital Infection , cilt.163, ss.51-55, 2025 (SCI-Expanded, Scopus)

4. Evaluation of the efficacy of regorafenib treatment by location and RAS mutation in metastatic colon cancer

Ata S., Gülmez A., KÖŞECİ T., ÖZALP Ö., ÇİL T., BOZKURT DUMAN B.

Medicine (United States) , cilt.104, sa.26, 2025 (SCI-Expanded, Scopus)

5. Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey

Anlas O., ÖZALP Ö., Cetinkunar S.

Molecular Syndromology , cilt.16, sa.3, ss.208-215, 2025 (SCI-Expanded, Scopus)

6. Effects of BRCA variation on prognosis in patients with nonmetastatic breast cancer

Türkel A., Onur I. D., Anik H., Öner I., ERDEM H. B., Bahsi T., et al.

Annals of Human Genetics , cilt.88, sa.6, ss.436-444, 2024 (SCI-Expanded, Scopus)

7. Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience

ÖZALP Ö., Anlas O.

Indian Journal of Hematology and Blood Transfusion , cilt.40, sa.2, ss.268-280, 2024 (SCI-Expanded, Scopus)

8. An unusual manifestation in a pediatric patient with MAFB mutation: Sacroiliitis in multicentric carpotarsal osteolysis syndrome

Kisla Ekinci R. M., ÖZALP Ö., Anlas O., ATMIŞ B., Ata A., Balci S.

International Journal of Rheumatic Diseases , cilt.26, sa.10, ss.2064-2068, 2023 (SCI-Expanded, Scopus)

9. A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities

Saadi A., Navarro C., ÖZALP Ö., Lourenco C. M., Fayek R., Da Silva N., et al.

American Journal of Medical Genetics, Part A , cilt.191, sa.9, ss.2274-2289, 2023 (SCI-Expanded, Scopus)

10. Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome

Ekinci R. M. K., Anlaş Ö., ÖZALP Ö.

Archives of Rheumatology , cilt.38, sa.2, ss.299-306, 2023 (SCI-Expanded, Scopus, TRDizin)

11. The Role of miR-26a, miR-29a and miR-448-3p in the Development of Cerebral Aneurysm

Boga Z., Anlas O., AÇIK V., ÖZALP Ö., GEZERCAN Y.

Turkish Neurosurgery , cilt.33, sa.3, ss.423-430, 2023 (SCI-Expanded, Scopus)

12. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

Duan R., Hijazi H., Gulec E. Y., Eker H. K., Costa S. R., Sahin Y., et al.

Human Genetics and Genomics Advances , cilt.3, sa.4, 2022 (Scopus)

13. Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series

Kisla Ekinci R. M., Anlas O., ÖZALP Ö.

European Journal of Medical Genetics , cilt.65, sa.8, 2022 (SCI-Expanded, Scopus)

14. Diagnostic value of plasma lysosphingolipids levels in a Niemann-Pick disease type C patient with transient neonatal cholestasis

Bulut F. D., Bozbulut N. E., ÖZALP Ö., DALGIÇ B., Mungan N. O., Koc Ucar H., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.35, sa.5, ss.681-685, 2022 (SCI-Expanded, Scopus)

15. Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers Otizm Spektrum Bozukluğu, Entellektüel Yetersizlik ve Çoklu Konjenital Anomalilerde Mikroarray Yönteminin Tanısal Değeri ve Bazı Otizm Aday Genleri: İki Merkez Deneyimi

Ayaz A., Gezdirici A., Yilmaz Gulec E., ÖZALP Ö., KÖSEOĞLU A. H., Dogru Z., et al.

Medeniyet Medical Journal , cilt.37, sa.2, ss.180-193, 2022 (Scopus, TRDizin)

16. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

Mitani T., Isikay S., Gezdirici A., Gulec E. Y., Punetha J., Fatih J. M., et al.

American Journal of Human Genetics , cilt.108, sa.10, ss.1981-2005, 2021 (SCI-Expanded, Scopus)

17. A novel duplication involving PRDM13 in a turkish family supports its role in north carolina macular dystrophy (NCMD/ MCDR1)

Small K. W., Van de Sompele S., Nuytemans K., Vincent A., ÖZALP Ö., Ciloglu E., et al.

Molecular Vision , cilt.27, ss.518-527, 2021 (SCI-Expanded, Scopus)

18. Phenotypic expansion illuminates multilocus pathogenic variation

Karaca E., Posey J. E., Coban Akdemir Z., Pehlivan D., Harel T., Jhangiani S. N., et al.

Genetics in Medicine , cilt.20, sa.12, ss.1528-1537, 2018 (SCI-Expanded, Scopus)

19. A case with isochromosome 18p and 2q13 deletion including the BUB1 gene

Ayaz A., Topak A., YALÇINTEPE S., ÇELİK T., Yararbas K., Eser M., et al.

Clinical Dysmorphology , cilt.27, sa.3, ss.101-104, 2018 (SCI-Expanded, Scopus)

20. Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey

ÖZALP Ö., Ayaz A., YALÇINTEPE S., Canbek S., YANARDAĞ AÇIK D., Yilmaz B. T., et al.

Indian Journal of Hematology and Blood Transfusion , cilt.32, sa.4, ss.454-459, 2016 (SCI-Expanded, Scopus)

21. Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Fenwick A. L., Kliszczak M., Cooper F., Murray J., Sanchez-Pulido L., Twigg S. R., et al.

American Journal of Human Genetics , cilt.99, sa.1, ss.125-138, 2016 (SCI-Expanded, Scopus)

22. Coexistence of kabuki syndrome and autoimmune thyroiditis

Gürbüz F., ÖZALP Ö., CEYLANER S., Topaloğlu A. K., Yüksel B.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.8, sa.1, ss.105-106, 2016 (SCI-Expanded, Scopus, TRDizin)

23. A rare β°-thalassemia frameshift mutation in a Turkish individual: (+T) at codon 9/10

Ayaz A., YALÇINTEPE S., Canbek S., Sağır P., ÖZALP Ö.

Erciyes Tip Dergisi , cilt.38, sa.1, ss.46-47, 2016 (Scopus)

24. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Bayram Y., Karaca E., Akdemir Z. C., YILMAZ B. E., Tayfun G. A., Aydin H., et al.

Journal of Clinical Investigation , cilt.126, sa.2, ss.762-778, 2016 (SCI-Expanded, Scopus)

25. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Karaca E., Harel T., Pehlivan D., Jhangiani S. N., Gambin T., Coban Akdemir Z., et al.

Neuron , cilt.88, sa.3, ss.499-513, 2015 (SCI-Expanded, Scopus)

26. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome

Karaca E., ÖZALP Ö., Bozdogan S. T., Aslan H., Pehlivan D., Jhangiani S. N., et al.

American Journal of Medical Genetics, Part A , cilt.167, sa.11, ss.2795-2799, 2015 (SCI-Expanded, Scopus)

27. Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

Bozdogan S. T., ÖZALP Ö., BÜYÜKKURT N., Aslan H., Ozdemir Z. C., Gambin T.

Indian Journal of Hematology and Blood Transfusion , cilt.31, sa.2, ss.223-228, 2015 (SCI-Expanded, Scopus)

28. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

Yuan B., Pehlivan D., Karaca E., Patel N., Charng W., Gambin T., et al.

Journal of Clinical Investigation , cilt.125, sa.2, ss.636-651, 2015 (SCI-Expanded, Scopus)

29. The prevalence of gap junction protein beta 2 (GJB2) mutations in non syndromic sensorineural hearing loss in Çukurova region

Bozdoğan S. T., Kuran G., ÖZALP Ö., Aslan H., Haytoğlu S., Ayaz A., et al.

Journal of International Advanced Otology , cilt.11, sa.2, ss.118-121, 2015 (SCI-Expanded, Scopus)

30. Plasminogen activator inhibitor-1 5G/5G genotype is associated with early spontaneous recanalization of the infarct-related artery in patients presenting with acute ST-elevation myocardial infarction

Cagliyan C. E., ÖZALP Ö., BALLI M., Tekin K., Akilli R. E., Bozdogan S. T., et al.

Coronary Artery Disease , cilt.24, sa.3, ss.196-200, 2013 (SCI-Expanded, Scopus)

31. Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families

Traverso M., ÖZALP Ö., Mimouni-Bloch A., Rossi A., Aslan H., Gazzerro E., et al.

European Journal of Paediatric Neurology , cilt.17, sa.1, ss.108-111, 2013 (SCI-Expanded, Scopus)

32. PAI-1 4G/5G gene polymorphism is associated with angiographic patency in ST-elevation myocardial infarction patients treated with thrombolytic therapy

Ozkan B., Cagliyan C. E., Elbasan Z., Uysal O. K., Kalkan G. Y., Bozkurt M., et al.

Coronary Artery Disease , cilt.23, sa.6, ss.400-403, 2012 (SCI-Expanded, Scopus)

33. Nonsense β-Thalassemia mutation at codon 37 (TGG>TGA), detected for the first time in three Turkish cases

Bozdogan S. T., Unsal C., Erkman H., Genc A., ÖZALP Ö., MÜSLÜMANOĞLU M. H., et al.

Hemoglobin , cilt.36, sa.3, ss.283-288, 2012 (SCI-Expanded, Scopus)

34. Fluorescent in situ hybridization studies in multiple myeloma

ÖZALP Ö., Sahin F. I., Yilmaz Z., Kizilkilic E., Karakus S., Ozdogu H.

Hematology , cilt.14, sa.2, ss.90-94, 2009 (SCI-Expanded, Scopus)

35. Multiple chromosome abnormalities in the pleural fluid of a patient with recurrent ewing sarcoma

ÖZALP Ö., Sahin F. I., Avci Z., Yilmaz Z., Celasun B., Sarialioglu F.

Pediatric Hematology and Oncology , cilt.26, sa.4, ss.267-272, 2009 (SCI-Expanded, Scopus)

36. Ethical considerations regarding parental decisions for termination following prenatal diagnosis of sex chromosome abnormalities

Yilmaz Z., Sahin F., Bulakbasi T., ÖZALP Ö., Tarim E., Yanik F.

Genetic Counseling , cilt.19, sa.3, ss.345-352, 2008 (SCI-Expanded, Scopus)

37. Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands

ÖZALP Ö., Ozcimen E., Yilmaz Z., Yanik F., Sahin F. I.

Genetic Counseling , cilt.19, sa.1, ss.43-46, 2008 (SCI-Expanded, Scopus)

38. Chromosome heteromorphisms: An impact on infertility

Sahin F. I., Yilmaz Z., ÖZALP Ö., Bulakbasi T., Ozer O., Zeyneloglu H. B.

Journal of Assisted Reproduction and Genetics , cilt.25, sa.5, ss.191-195, 2008 (SCI-Expanded, Scopus)

39. Cytogenetic findings and clinical outcomes of adult acute myeloid leukaemia patients

Sahin F. I., Kizilkilic E., Bulakbasi T., Yilmaz Z., Boga C., ÖZALP Ö., et al.

Clinical and Experimental Medicine , cilt.7, sa.3, ss.102-107, 2007 (SCI-Expanded, Scopus)

40. Amniotic band sequence in a case with congenital extremity amputation Konjenital ekstremite amputasyonlu olguda amniyotik bant sekansi

ÖZALP Ö., Şahin F. I., Bahar T., Yilmaz Z., Niron E. A.

Erciyes Tip Dergisi , cilt.29, sa.4, ss.336-340, 2007 (Scopus, TRDizin)

41. Comparison of conventional cytogenetic and fluorescence in situ hybridization results of prenatal aneuploidy screening

Yilmaz Z., ÖZALP Ö., Tarim E., Üçkuyu A., Daǧli V., Şahin F. I.

Turkish Journal of Medical Sciences , cilt.37, sa.2, ss.69-74, 2007 (Scopus, TRDizin)

42. 45,XY,der(13;14)(q10;q10) in an azoospermic man with hypogonadotrophic hypogonadism [2]

ÖZALP Ö., Yilmaz Z., Kilicdag E. B., Bolat F., Bagis T., Sahin F. I.

Asian Journal of Andrology , cilt.8, sa.6, ss.751-753, 2006 (SCI-Expanded, Scopus)

43. Prenatal diagnosis of mosaicism identified in amniotic fluid cell cultures

Sahin F. I., Sahin F., Yilmaz Z., Uckuyu A., ÖZALP Ö., Tarim E., et al.

Genetic Counseling , cilt.17, sa.3, ss.341-348, 2006 (SCI-Expanded, Scopus)

44. Clonal monosomy 7 in a megakaryoblastic leukemia developed on the basis of fanconi anemia

Yilmaz Z., ALİOĞLU B., ÖZALP Ö., Yilmaz B. T., Özyürek H. E., ÖZBEK N. Y., et al.

Journal of Pediatric Hematology/Oncology , cilt.27, sa.10, ss.565-566, 2005 (SCI-Expanded, Scopus)

Yayınlar & Eserler

Yayın

Yayın (WoS)

Yayın (Scopus)

H-İndeks (WoS)

Atıf (Scopus)

H-İndeks (Scopus)

Tez Danışmanlığı

Açık Erişim