SCI-SSCI, SCI Expanded ve AHCI Kapsamındaki Yayınları

• Sadettin Yıldız, İrem İnanç, Drenushe Zhurı, Engin Atlı, Dinçer Avlan.The possible role of epigenetics in the etiology of hypospadias. Journal of Pediatric Urology. doi.org/10.1016/j.jpurol.2024.07.001 (Temmuz 2024)

• Drenushe Zhuri , Hazal Sezginer Guler , Sinem Yalcintepe , Selma Demir , Engin Atli , Emine Ikbal Atli , Hakan Gurkan. Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss. J Int Adv Otol 2024; 20(4): 312-324 • DOI: 10.5152/iao.2024.22919 (Temmuz 2024)

• Marwa Mahdouani ,Drenushe Zhuri,Hazal Sezginer Guler,Dorra Hmida,Mokni Sana,Mohamed Azaza,Mariem Ben Said,Saber Masmoudi,Fahmi Hmila,Sabri Youssef,Rihab Ben Sghaier,Angela Brieger,Stefan Zeuzem,Ali Saad,Hakan Gurkan,Sinem Yalcintepe,Moez Gribaa,Guido Plotz. Functional analysis of MMR gene VUS from potential Lynch syndrome patients. Plos One https://doi.org/10.1371/journal.pone.0304141 (Haziran 2024)

  2 ATIF

  ATIFLAR

  • https://doi.org/10.3389/fmed.2024.1464672
  • https://doi.org/10.3390/cells13161314

• Drenushe Zhuri and Sinem Yalcintepe, Liquid biopsy as a new era in endometrial cancer. From the journal Oncologie. doi.org/10.1515/oncologie-2024-0036 (Nisan 2024)

• Sinem Yalcintepe; Tuba Maras; Ilke Kizilyar; Hazal Sezginer Guler; Drenushe Zhuri; Engin Atli; Yasemin Ozen; Hakan Gurkan. Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease. Mol Syndromol 1–5. https://doi.org/10.1159/000536386 (Şubat 2024)

• Sinem Yalcintepe, Isik Gorker, Leyla Bozatli, Hazal Sezginer Guler, Drenushe Zhuri, Selma Demir, Emine Ikbal Atli, Engin Atli, Damla Eker, Hakan Gurkan Clinical exome sequencing reveals an important role for clinical diagnosis of intellectual disability with definition of seven novel variants. Neurology Asia 2023; 28(4) : 1041 – 1052 (Aralık 2023)

• Drenushe Zhuri, Fulya Dusenkalkan, Guzin Tunca Alparslan, Hakan Gurkan A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient. Mol Syndromol DOI: 10.1159/000530585 (Mayıs 2023)

  1 ATIF

  ATIFLAR

  • DOI: 10.1097/MCD.0000000000000502

• Sinem Yalcintepe, Drenushe Zhuri, Hazal Sezginer Guler, Engin Atli, Selma Demir, Emine Ikbal Atli, Cisem Mail, Hakan Gurkan. Jacobsen Syndrome Firstly Reported with Dextrocardia Diagnosed with del(11) (q24q25). Molecular syndromology. https://doi.org/10.1159/000519149 (Mayıs 2022)

  2 ATIF

  ATIFLAR

  • https://doi.org/10.53529/2500-1175-2024-1-27-35
  • DOI: https://doi.org/10.33448/rsd-v13i3.45229

• Sinem YALÇINTEPE1 , Işık GÖRKER2 , Selma DEMİR1 , Emine İkbal ATLI1 , Engin ATLI1 , Hilmi TOZKIR1 , Necdet SÜT3 , Yasemin ÖZEN1 , Damla EKER1 , Çisem MAİL1, Hazal SEZGİNER GÜLER1 , Drenushe ZHURI1 , Hakan GURKAN1. Investigation the Relationship of Autism Spectrum Disorder and FOXP2, GRIN2B, KATNAL2, GABRA4 Genes. Arch Neuropsychiatry 2021;58:171−175. https://doi.org/10.29399/npa.27407 (Ağustos 2021)

  4 ATIF

  ATIFLAR

  • DOI: 10.1016/j.celrep.2024.114257
  • https://doi.org/10.29399/npa.28625
  • doi: 10.1101/2023.06.26.546567
  • doi: 10.5606/dsufnjt.2023.15

Uluslararası Hakemli Dergilerde Yayınlanan Makaleler

• Nazan Akdağ, Engin Atli , Drenushe Zhuri̇, Hazal Sezgi̇ner Güler, Yıldız Gürsel Ürün. A Study of FoxO1, mTOR, miR-21, miR-29b, and miR-98 Expression Levels Regarding Metabolic Syndrome in Acne Vulgaris Patients Cureus 16(3): e56562. doi:10.7759/cureus.56562 (Mart 2024)

• Sinem Yalcintepe1 Yasemin Karal2 Selma Demir1 Emine Ikbal Atli1 Engin Atli1 Damla Eker1 Cisem Mail1 Drenushe Zhuri1 Hazal Sezginer Guler1 Hakan Gurkan1. The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method. Glob Med Genet 2023;10:117–122. (Haziran 2023)

• Drenushe Zhuri  , Hakan Gurkan , Damla Eker , Yasemin Karal , Sinem Yalcintepe , Engin Atli , Selma Demir , Emine Ikbal Atli Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype Glob Med Genet 2022; 09(03): 226-236 DOI: 10.1055/s-0042-1751302 (Eylül 2022)

  7 ATIF

  ATIFLAR

  • https://doi.org/10.3389/fneur.2024.1382410
  • https://doi.org/10.3892/etm.2024.12650
  • https://doi.org/10.1186/s12915-024-01888-z
  • https://doi.org/10.52645/MJHS.2023.4.04
  • Epidemiological Study of Neuromuscular Diseases in the Varna Region-МВ Грудкова
  • https://doi.org/10.17650/2222-8721-2023-13-62-73
  • https://doi.org/10.1101/2023.12.14.571739

• Sinem Yalcintepe, Hazal Sezginer Guler, Drenushe Zhuri, Damla Eker, Hakan Gurkan. Identification of a Novel KIF11 Variant p.(Leu804Thrfs Ter13) in a Case with Isolated Microcephaly.Journal of Head & Neck Physicians and Surgeons.DOI: 10.4103/jhnps.j hnps_14_22 (Haziran 2022)

• Sinem Yalcintepe, Hakan Gurkan, Fatma Nur Korkmaz, Selma Demir, Engin Atli, Damla Eker, Hazal Sezginer Guler, Drenusha Zhuri, Emine Ikbal Atli, Semra Ayturk Salt, Mustafa Sahin, Sibel Guldiken. Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma. Journal of Kidney Cancer and VHL doi: 10.15586/jkcvhl.v8i1.171 (Mart 2021)

  2 ATIF

  ATIFLAR

  • https://doi.org/10.1210/jendso/bvae038
  • https://doi.org/10.1507/endocrj.EJ21-0611

Uluslararası Bilimsel Toplantılarda Sunulan ve Bildiri Kitabında Basılan Bildiriler (Proceedings)

• Ece ÇİÇEK, Drenushe Zhurı, Nilay Ozupek, Hazal Sezginer Guler, Umut Çiçek, Hakan Gurkan.Landscape of Germline Variants in Cases of Ovarian Cancer: Insights from a Single-Center Study.ESHG 2024, Berlin (Hybrid Poster) (Haziran 2024)

• Selma Demir, Sinem Yalçintepe, Veysel Öz, Yasemin Karal, Engin Atli, Drenusha Zhuri, Hazal Sezginer Guler, Yelda Yalçın, Hakan Gurkan.Tracing The Genetic Basis of Hypotonia in Whole Exome Sequencing Data: Experinces of Trakya University Genetic Diagnosis Center.ESHG 2024, Berlin (E-poster) (Haziran 2024)

• Engin Atli, Sinem Yalçintepe, Veysel Oz, Drenushe Zhuri, Yasemin Ozen, Emine Ikbal Atli, Selma Demir, Işık Görker, Hakan Gurkan.Whole exome sequencing results in autism spectrum disorders patients living in the Trakya Region of Türkiye: Trakya University experience.ESHG 2024, Berlin (E-poster) (Haziran 2024)

• HAKAN GURKAN, Engin Atli, Nilay Ozupek, Bilge Nihan Satkın, Drenusha Zhuri, Hazal Sezginer Guler, Selma Demir, Sernaz Topaloğlu, Atakan Sezer, Ebru Taştekin, Nermin Tunçbilek. Investigation of variant distribution and frequency in triple negative breast cancer patients living in the Trakya Region of Turkey: A Single Center Experience. ESHG, 2024. Berlin (Hybrid Poster) (Haziran 2024)

• Drenushe Zhurı, Engin Atli, Hazal Sezginer Guler, Fulya Dusenkalkan, Nilay Ozupek, Selma Demir, Sinem Yalçintepe, Hakan Gurkan.Comprehensive molecular profiling of breast cancer subtypes in a Turkish population: Insights from next-generation sequencing analysis. ESHG 2024, Berlin (Hybrid Poster) (Haziran 2024)

• Nilay Özüpek, Fulya Düşenkalkan, Veysel Öz, Drenusha Zhuri, Hazal Sezginer Güler, Engin Atlı, Sinem Yalçıntepe, Hakan Gürkan.RESULTS OF DMD GENE DELETION/DUPLICATION ANALYSIS IN DUCHENNE MUSCULAR DYSTROPHY PATIENTS: SINGLE-CENTER EXPERIENCE. TRAKYA ÜNİVERSİTELER BİRLİĞİ VI. ULUSLARARASI SAĞLIK BİLİMLERİ KONGRESİ, 30 Kasım - 01 Aralık 2023, Edirne (Sözlü sunum) (Aralık 2023)

• Hazal Sezginer Güler, Drenushe Zhuri, Engin Atlı, Sibel Güler, Sinem Yalçıntepe, Hakan Gürkan. NAVIGATING HUNTINGTON'S CHALLENGES: THE CRUCIAL ROLE OF GENETIC EVALUATION IN DIAGNOSIS WITHIN THE THRACE REGION.TRAKYA ÜNİVERSİTELER BİRLİĞİ VI. ULUSLARARASI SAĞLIK BİLİMLERİ KONGRESİ, 30 Kasım - 01 Aralık 2023, Edirne (Sözlü sunum) (Aralık 2023)

• Drenushe ZHURI, Hazal Sezginer GÜLER, Hakan GÜRKAN. MOLECULAR ALTERATIONS AND CHARACTERIZATION OF THE TARGETED GENES IN PANCREATIC CANCER CASES, TRAKYA ÜNİVERSİTELER BİRLİĞİ VI. ULUSLARARASI SAĞLIK BİLİMLERİ KONGRESİ, 30 Kasım - 01 Aralık 2023, Edirne (Sözlü sunum) (Aralık 2023)

• Hazal Sezginer Guler, Drenushe Zhuri, Sevval Kaya, Engin Atli, Selma Demir, Sinem Yalcintepe, Hakan Gurkan.FREQUENCIES OF LIKELY PATHOGENIC AND PATHOGENIC VARIANTS IN THE THRACE REGION: A SINGLE CENTER EXPERIENCE.14th Balkan Congress of Human Genetics & 9th Rare Disease (Poster) (Ekim 2023)

• Engin Atli, Drenushe Zhuri, Hazal Sezginer Guler, Sinem Yalcintepe, Hakan Gurkan. MTDNA NGS RESULTS IN MITOCHONDRIAL DISORDERS OF TRAKYA UNIVERSITY. 14th Balkan Congress of Human Genetics & 9th Rare Disease. (Oral presentation) (Ekim 2023)

• Netzat Moustafa, Hakan Gürkan, Engin Atli, Sinem Yalçintepe, Drenushe Zhuri, Hazal Sezginer Güler. INVESTIGATION OF THE RELATIONSHIP OF NLRP2, NLRP7 AND KHDC3L GENE VARIATIONS IN PATIENTS WITH RECURRENT PREGNANCY LOSS HISTORY.14th Balkan Congress of Human Genetics & 9th Rare Disease SEE Meeting 2023. (Poster presentation) (Ekim 2023)

• Drenushe Zhuri, Fulya Dusenkalkan, Nilay Ozupek, Cihan Inan, Engin Atli, Sinem Yalcintepe, Niyazi Cenk Sayin, Hakan Gurkan. CLINICAL SIGNIFICANCE OF MICRODELETIONS AND EPIGENETIC MODIFICATIONS ON CHROMOSOME 11P15.5 IN PRENATAL AND POSTNATAL DIAGNOSIS.14th Balkan Congress of Human Genetics & 9th Rare Disease (5-7 October, Poster Presentation) (Ekim 2023)

Ulusal Bilimsel Toplantılarda Sunulan ve Bildiri Kitabında Basılan Bildiriler

• Drenushe ZHURI, Sinem YALÇINTEPE, Hakan GÜRKAN Geçmişten Günümüze Y kromozomu ve Klinik Tanıdaki Önemi. Trakya Üniversitesi Birliği, 7. Lisansüstü Öğrenci Kongresi 7-8 Aralık (Sözlü sunum) (Aralık 2023)

• Hazal Sezginer Guler, Drenushe Zhuri, Fulya Dusenkalkan, Engin Atli, Selma Demir,Sinem Yalcintepe, Hakan Gurkan.Investigation Of Endometrial Cancer Variants By Targeted High-Throughput Sequencing: Two Novel Variants In Atm And Msh6 Genes 15. ULUSAL TIBBI GENETİK KONGRESİ-Muğla (Sözlü Sunum) (Kasım 2022)

• Drenushe Zhuri, Hazal Sezginer Guler, Fulya Dusenkalkan, Engin Atli, Selma Demir, Sinem Yalcintepe, Hakan Gurkan Investigation Of Genetic Etiology Medullary Thyroid Cancer Patients With Next Generation Sequencing Method. 15. ULUSAL TIBBI GENETİK KONGRESİ-Muğla (Sözlü Sunum) (Kasım 2022)

• Drenushe Zhuri, Hazal Sezginer Guler, Damla Eker, Fulya Dusenkalkan, Engin Atli, Sinem Yalcintepe, Selma Demir, Hakan Gurkan. Investigation of genetic etiology in gastrointestinal cancer patients with next generation sequencing method.6. Uluslararası Katılımlı Erciyes Tıp Tıbbi Genetik Kongresi (16-18 september) Sözlü sunum (Eylül 2021)

• Hazal Sezginer Guler, Drenushe Zhuri, Damla Eker, Fulya Dusenkalkan, Engin Atli, Sinem Yalcintepe, Selma Demir, Hakan Gurkan. Investigation of hereditary breast and ovarian cancer variants by targeted high-throughput sequencing method: single center experience. 6. Uluslararası Katılımlı Erciyes Tıp Tıbbi Genetik Kongresi (16-18 september) Sözlü sunum (Eylül 2021)

• Drenushë Zhuri, Hakan Gürkan, Damla Eker, Sinem Yalçıntepe, Engin Atlı, Selma Demir, Emine İkbal Atlı. Spinal müsküler atrofi fenotipinde modifiye edici genlerin etkilerinin araştırılması. 14 Ulusal Tıbbi Genetik Kongresi, e-kongre, 20-22 Kasım 2020. (Sözlü sunum) (Aralık 2020)

• Damla EKER, Hakan GÜRKAN, Sinem YALÇINTEPE, Emine İkbal ATLI, Selma DEMİR, Engin ATLI, Drenushë ZHURİ, Nihan Alişya ERMAN, Hilmi TOZKIR. FARKLI KLİNİK ÖN TANILI HASTALARDA FMR 1 GENİ (CGG) TEKRAR SAYILARININ ARAŞTIRILMASI. 13 Ulusal Tıbbi Genetik Kongresi, Poster (7-11 Kasım) (Kasım 2018)

Yapılan Hakemlikler

• BMC Medical Genomics (Ağustos 2024)

• Global Medical Genetics (Ağustos 2024)

• Neurological Research (Şubat 2024)

• Egyptian Journal of Medical Human Genetics (Şubat 2024)

• Egyptian Journal of Medical Human Genetics (Kasım 2023)

Anatomi

Genel Biyokimya

Genetik İşitme Kayıpları

Kanser tanısında moleküler genetik yöntemler

Laboratuvarda Güvenlik

Tıbbi Biyoloji ve Genetik