Asst. Prof. Taner Karakaya

Instructor

Samsun University Faculty of Medicine, Internal Medicine, Department of Medical Genetics


Education: Atatürk University Faculty of Medicine (2009-2012), Ondokuz Mayıs University Faculty of Medicine (2012-2015), Çanakkale Onsekiz Mart University Faculty of Medicine, Medical Genetics- Medical Specialization (2020).
Research Areas: Thalassemias and variant hemoglobins, hematological and oncological cancers, familial cancer cases such as breast, ovarian and colon cancer, individuals with mental and physical special needs, genetic syndromes, metabolic diseases, couples with reproductive problems, recurrent pregnancy losses, rheumatological and autoinflammatory diseases such as FMF, ankylosing spondylitis, Behçet's, neurological, nephrological and cardiological diseases, recurrent deep vein thrombi and coagulation disorders with a history of embolism, pregnant women with anomalies detected in fetal ultrasonography and pregnant women with high risk detected in screening tests, individuals with congenital hearing loss.

Selected Studies: She wrote her medical specialization thesis titled “Investigation of genotype-phenotype relationship of mutations in Kruppel-like factor 1 and Hemoglobin subunit delta genes in individuals with HbF or HbA2 abnormalities” (2019). Some of his studies are: “Utility of optical genome mapping in repeat disorders” (2024), “Systemic immune inflammation index and pan-immune inflammation value in predicting human leukocyte antigen-b27 positivity: a study on ankylosing spondylitis patients” (2024), “Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis” (2024), “Molecular profile ing of BRCA1 and BRCA2 genes in Turkish patients with early-onset breast cancer.” (2023), “The genetic spectrum of polycystic kidney disease in children” (2023), “The new youngest case of Grange syndrome with a novel biallelic pathogenic variant in YY1AP1” (2023), “Two siblings with GAPO syndrome: a novel missense variant in ANTXR1” (2023), “A new mutation, Hb A2-Canakkale [δ10(A7)Ala→Val; HBD: c.32C>T]. in a child with Filippi syndrome and congenital talipes equinovarus” (2021), “The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report.” (2018).
Office: Samsun Health Application and Research Center (Samsun Education and Research Hospital)
E-mail: [email protected]
Tel: +90 (362) 311 15 00

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