| Education/Academic Info | ||
|---|---|---|
| Undergraduate Degree | Eskişehir Osmangazi University Tıp Fakültesi | 2001 |
| Specialization in Medicine | Erciyes University Tıp Fakültesi Tıbbi Genetik Anabilim Dalı | 2007 |
| Associate Professor | Tıbbi Genetik | 2012 |
| Full Professor | Dokuz Eylül University Sağlık Bilimleri Enstitüsü | 2019 |
| NO | NAME | YEAR |
| 1 | Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G>A) in Warburg Mi... | 2023 |
| 2 | MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9... | 2023 |
| 3 | Unexpected fnding in kidney biopsy of a child with nephrotic proteinuria: Answers... | 2023 |
| 4 | Unexpected finding in kidney biopsy of a child with nephrotic proteinuria: Questions... | 2023 |
| 5 | Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the Na... | 2022 |
| 6 | Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation seq... | 2022 |
| 7 | A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual di... | 2022 |
| 8 | Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.... | 2021 |
| 9 | Nasopharyngeal carcinoma in a child with Kartagener`s syndrome.... | 2021 |
| 10 | Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE)... | 2021 |
| 11 | Clinical Features, Treatment and Outcome of Childhood Glial Tumors.... | 2021 |
| 12 | Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atro... | 2021 |
| 13 | METAP1 mutation is a novel candidate for autosomal recessive intellectual disability... | 2021 |
| 14 | Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric ca... | 2020 |
| 15 | COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration... | 2019 |
| 16 | MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar,... | 2019 |
| 17 | Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.... | 2018 |
| 18 | Biallelic loss of human CTNNA2, encoding ?N-catenin, leads to ARP2/3 complex overactivity and disord... | 2018 |
| 19 | Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families.... | 2018 |
| NO | NAME | DATE |
| 1 | Pah Geni Varyantlarının Retrospektif Olarak Değerlendirilmesi: Tek Merkez Deneyimi... | 09/11/2022 - 13/11/2022 |
| 2 | Demans ön tanılı hastaların yeni nesil dizileme panel yöntemi ile araştırılması... | 09/11/2022 - 13/11/2022 |
| 3 | A RARE CAUSE OF COMBINED HEPATIC AND RENAL FAILURE: NPHP19 DUE TO A NOVEL DCDC2 VARIANT IN TWO SIBLI... | 22/06/2022 - |
| 4 | Evaluation of supervision systems by PhD students in Dokuz Eylul University Graduate School of Healt... | 12/05/2022 - 14/05/2022 |
| 5 | Targeted next generation sequencing analysis of 30 Turkish patients with inherited cardiomyopathies... | 20/11/2020 - 22/11/2020 |
| 6 | Pathogenic variations of MUTYH gene in hereditary cancer cases... | 20/02/2020 - 22/02/2020 |
| 7 | Genetic analyses in understanding of renal tubulopathies... | 20/02/2020 - 22/02/2020 |
| 8 | Identifying Common Pathogenesis of Diseases Using Literature Mined Gene Interactions... | 17/10/2019 - 19/10/2019 |
| 9 | MACROD2 gene expression profile in autism spectrum disorder: a case-control study... | 18/04/2019 - 21/04/2019 |
| NO | CHAPTER TITLE | YEAR |
| 1 | Otizm Spektrum Bozukluklarına Multiomik Yaklaşım Otizm Spektrum Bozukluklarinda Genetik Değerlendirme ve En Son Genetik Çalişmalar... | 2022 |
| 2 | Anne Sütü ve Epigenetik Aile Hekimliğinde Anne Sütünün Anne ve Bebek Sağlığı Açısından Önemi - 2019... | 2019 |
| 3 | Çoklu Konjenital Anomalisi Bulunan Hastalarda Güncel Tanı Yöntemleri: Laboratuvardan Kliniğe Sitogenetik... | 2018 |
| NO | NAME | DATE |
| 1 | Saglık Bilimlerinde Arastırma Projeleri Hazırlama Egitimi... | 4/2023 - 4/2023 |
| 2 | Sirkadiyen ritm ilişkili CRY1'e spesifik olan M47 molekülünün, prostat kanserinde normal ve uzatılmış aydınlatma koşullarında potansiyel anti-tümoral etkisininincelenmesi... | 5/2023 - 5/2025 |
| 3 | Obezite ve Metabolik Sendromun Kardiyovasküler Sistem Üzerine Etkisi ve FTO rs9939609 gen Polimorfizm İlişkisi... | 10/2019 - / |
| 4 | Nörogenetik hastalıklarda yeni nesil dizileme teknolojisi ile genetik etyolojinin araştırılması ve bilinmeyen genlerin tanılanması... | 7/2019 - / |
| 5 | Kawasaki hastalığının epidemiyolojik karakteristiği, sorumlu genlerin tüm ekzom ve genom dizileme yöntemleriyle tesbit edilmesi... | 4/2019 - / |
| 6 | Otizm Spektrum Bozukluğu Hastalarında Adenosin Reseptörü 2A (ADORA 2A) geni ekspresyonunun İncelenmesi... | 9/2018 - 9/2019 |
| 7 | Otizm Spektrum Bozukluğu Hastalarında Hedef Gen TMLHE Ekspresyon Profilinin İncelenmesi... | 9/2017 - 9/2019 |
| NO | Responsibility | |
| 1 | Teaching Hospital , Vice Head Doctor, February 2024-Continues | |
| 2 | Teaching Hospital , Vice Head Doctor, January 2024- February 2024 | |
| 3 | DEÜ Rectorate Bilimsel Araştırmalar ve Yayın Etiği Kurulu (Sağlık Bilimleri) Member, January 2024-Continues | |
| 4 | Teaching Hospital , Vice Head Doctor, November 2023- January 2024 | |
| 5 | Teaching Hospital , Vice Head Doctor, November 2023- November 2023 | |
| 6 | DEÜ Rectorate Girişimsel Olmayan Araştırmalar Etik Kurulu Member, May 2023- January 2024 | |
| 7 | Graduate School of Health Sciences , Member of The Institute Council, June 2022- November 2023 | |
| 8 | Graduate School of Health Sciences , Member of The Institute Council, June 2022- November 2023 | |
| 9 | Graduate School of Health Sciences , Vice Director of The Institute, June 2022- November 2023 | |
| 10 | Graduate School of Health Sciences , Member of The Institute Council, January 2022- June 2022 | |
| 11 | Graduate School of Health Sciences , Member of The Institute Council, January 2022- June 2022 | |
| 12 | Graduate School of Health Sciences , Vice Director of The Institute, January 2022- June 2022 | |
| 13 | DEÜ Rectorate Girişimsel Olmayan Araştırmalar Etik Kurulu Member, May 2021- May 2023 |
