Education Information
2004 - 2010
2004 - 2010Doctorate
Hacettepe Üniversitesi, Fen Bilimleri Enstitüsü, Biyoloji/Moleküler Biyoloji, Turkey
2001 - 2004
2001 - 2004Postgraduate
Hacettepe Üniversitesi, Fen Bilimleri Enstitüsü, Biyoloji/Moleküler Biyoloji, Turkey
1997 - 2001
1997 - 2001Undergraduate
Hacettepe Üniversitesi, Fen Fakültesi, Biyoloji, Turkey
Dissertations
2010
2010Doctorate
Kalıtsal Retina Dejenerasyonlarında DNA Mikroarray Yöntemiyle Yüksek Ölçekli Genom Taraması
Hacettepe Üniversitesi, Fen Fakültesi, Biyoloji Bölümü
2004
2004Postgraduate
Yaşa Bağlı Maküler Dejenerasyonlu (AMD) Türk Hastalarda ABCR Geninde Sekans Değişikliklerinin Saptanması
Hacettepe Üniversitesi, Fen Bilimleri Enstitüsü, Moleküler Biyoloji (Yl) (Tezli)
Foreign Languages
B2 Upper Intermediate
B2 Upper IntermediateEnglish
Research Areas
Medicine, Health Sciences, Internal Medicine Sciences, Child Health and Diseases, Life Sciences, Molecular Biology and Genetics, Genetic Disorders, Natural Sciences
Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes
2021
2021Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity
DURSUN A. , YALNIZOĞLU D. , Yilmaz D. Y. , Oguz K. K. , GÜLBAKAN B. , KOŞUKCU C., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.64, no.11, 2021 (Journal Indexed in SCI)
2021
2021Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant
BİLGİNER GÜRBÜZ B. , YÜCEL YILMAZ D. , ÖZGÜL R. K. , KOŞUKCU C. , DURSUN A. , SİVRİ H. S. , et al.
TURKISH JOURNAL OF PEDIATRICS, vol.63, no.4, pp.691-696, 2021 (Journal Indexed in SCI)
2020
2020Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients
BİLGİNER GÜRBÜZ B. , YÜCEL YILMAZ D. , COŞKUN T. , TOKATLI A. , DURSUN A. , SİVRİ H. S.
EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.63, no.11, 2020 (Journal Indexed in SCI)
2020
2020A measure of possible sources of demotivation in L2 writing: A scale development and validation study
Karaca M. , Inan S.
ASSESSING WRITING, vol.43, pp.63-77, 2020 (Journal Indexed in SSCI)
2019
2019Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect
DURSUN A. , YALNIZOĞLU D. , ÖZGÜL R. K. , Oguz K. K. , Yucel-Yilmaz D.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2019 (Journal Indexed in SCI)
2019
2019Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect
YALNIZOĞLU D. , ÖZGÜL R. K. , Oguz K. K. , Ozer B., Yucel-Yilmaz D. , Gurbuz B., et al.
JOURNAL OF INHERITED METABOLIC DISEASE, vol.42, no.2, pp.381-388, 2019 (Journal Indexed in SCI)
2018
2018Five novel ALMS1 gene mutations in six patients with Alstrom syndrome
Kilinc S., Yucel-Yilmaz D. , Ardagil A., Apaydin S., Valverde D., ÖZGÜL R. K. , et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.31, no.6, pp.681-687, 2018 (Journal Indexed in SCI)
2018
2018Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span
Yucel-Yilmaz D. , Yucesan E., YALNIZOĞLU D. , Oguz K. K. , Sagiroglu M. S. , Ozbek U., et al.
BRAIN & DEVELOPMENT, vol.40, no.6, pp.458-464, 2018 (Journal Indexed in SCI)
2017
2017Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey
Kilic M., DURSUN A. , COŞKUN T. , TOKATLI A. , ÖZGÜL R. K. , YUCEL-YILMAZ D. , et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.173, no.11, pp.2954-2967, 2017 (Journal Indexed in SCI)
2017
2017A patient with mitochondrial disorder due to a novel mutation in MRPS22
Kilic M., Oguz K., Kilic E. , YÜKSEL D., DEMİRCİ H., SAĞIROĞLU M. S. , et al.
METABOLIC BRAIN DISEASE, vol.32, no.5, pp.1389-1393, 2017 (Journal Indexed in SCI)
2017
2017A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation
DURSUN A. , YALNIZOĞLU D. , Gerdan O. F. , Yucel-Yilmaz D. , Sagiroglu M. S. , YUKSEL B., et al.
CLINICAL DYSMORPHOLOGY, vol.26, no.1, pp.1-12, 2017 (Journal Indexed in SCI)
2016
2016Evaluation and identification of IDUA gene mutations in Turkish patients with mucopolysaccharidosis type I
Atceken N. , ÖZGÜL R. K. , Yilmaz D. Y. , TOKATLI A. , COŞKUN T. , SİVRİ H. S. , et al.
TURKISH JOURNAL OF MEDICAL SCIENCES, vol.46, no.2, pp.404-408, 2016 (Journal Indexed in SCI)
2015
2015Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four
ÖZLEM U., GÖKMEN ÖZEL H. , COŞKUN T. , ÖZGÜL R. K. , YÜCEL YILMAZ D. , BURCU H., et al.
Turkish Journal Of Pediatrics, pp.213-218, 2015 (Journal Indexed in SCI Expanded)
2015
2015Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening
KARACA M., ÖZGÜL R. K. , ÜNAL O., Yucel-Yilmaz D. , KILIÇ M., Hismi B., et al.
EUROPEAN JOURNAL OF PEDIATRICS, vol.174, no.8, pp.1077-1084, 2015 (Journal Indexed in SCI)
2015
2015Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 genemutation.
ÜNAL Ö., ÖZGÜL R. K. , YÜCEL YILMAZ D. , YALNIZOĞLU D. , TOKATLI A. , SİVRİ H. S. , et al.
Turkish Journal Of Pediatrics, vol.57, pp.388-393, 2015 (Journal Indexed in SCI Expanded)
2014
2014Genome-Wide Homozygosity Mapping in Families with Leber Congenital Amaurosis Identifies Mutations in AIPL1 and RDH12 Genes
Yucel-Yilmaz D. , TARLAN B., KIRATLI H. , ÖZGÜL R. K.
DNA AND CELL BIOLOGY, vol.33, no.12, pp.876-883, 2014 (Journal Indexed in SCI)
2014
2014Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia
ÖZGÜL R. K. , Karaca M., Kilic M., KUCUK O., YUCEL-YILMAZ D. , UNAL O., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.57, no.10, pp.596-601, 2014 (Journal Indexed in SCI)
2014
2014Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines
ÖZGÜL R. K. , YUCEL-YILMAZ D. , DURSUN A.
JOURNAL OF CLINICAL IMMUNOLOGY, vol.34, no.3, pp.265-266, 2014 (Journal Indexed in SCI)
2014
2014High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands
Karaca M. , Hismi B., ÖZGÜL R. K. , Karaca S., Yilmaz D. Y. , COŞKUN T. , et al.
GENE, vol.534, no.2, pp.197-203, 2014 (Journal Indexed in SCI)
2013
2013Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations
Oezgul R. K. , Guezel-Ozantuerk A. , Duendar H., Yuecel-Yilmaz D., COŞKUN T. , Sivri S., et al.
JOURNAL OF HUMAN GENETICS, vol.58, no.10, pp.675-678, 2013 (Journal Indexed in SCI)
2012
2012OCTN2 GENE MUTATIONS IN TURKISH PATIENTS WITH PRIMARY CARNITINE DEFICIENCY
Yucel-Yilmaz D. , Ersoy M., Candan S., Balci M., KILIÇ M., Gokcay G., et al.
JOURNAL OF INHERITED METABOLIC DISEASE, vol.35, 2012 (Journal Indexed in SCI)
2012
2012Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients
Yucel D. , YILMAZ M., DURUKAN A. H. , ÖZGÜL R. K.
OPHTHALMIC GENETICS, vol.33, no.3, pp.144-149, 2012 (Journal Indexed in SCI)
2008
2008Comparative analysis of genetic diversity in Turkish durum wheat cultivars using RAPD and ISSR markers
Karaca M. , İZBIRAK A.
JOURNAL OF FOOD AGRICULTURE & ENVIRONMENT, vol.6, pp.219-225, 2008 (Journal Indexed in SCI)
Articles Published in Other Journals
2021
2021An investigation of quality assurance practices in online English classes for young learners
Inan S., Karaca M.
QUALITY ASSURANCE IN EDUCATION, 2021 (Journal Indexed in ESCI)
2016
2016HOMOZYGOUS GNAL MUTATION ASSOCIATED WITH FAMILIAL CHILDHOOD-ONSET GENERALIZED DYSTONIA
MASUHO I. , FANG M., GENG C., ZHANG J., JİANG H., ÖZGÜL R. K. , et al.
NEUROLOGY-GENETICS, vol.2, no.3, 2016 (Journal Indexed in ESCI)
2013
2013A Case of Glutaric Aciduria Type I with a Novel Mutation
Unal N. U. , KOR D., YÜCEL YILMAZ D. , GÜL MERT G., Mungan N. O.
CUKUROVA MEDICAL JOURNAL, vol.38, no.4, pp.809-812, 2013 (Journal Indexed in ESCI)
Refereed Congress / Symposium Publications in Proceedings
2019
2019Severe Motor Mental Retardation with Microcepahlyand Hypomyelination due to PYCR2 Gene variant in aLarge Family
BİLGİNER GÜRBÜZ B., EROĞLU ERTUĞRUL N. G. , KOŞUKCU C. , YÜCEL YILMAZ D. , ÖZGÜL R. K. , YALNIZOĞLU D. , et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2019 (SSIEM-2019), Rotterdam, Netherlands, 3 - 06 September 2019, vol.42, pp.1-479
2019
2019Hyperphenylalaninemia due to novel JCDNA12 mutation
SİVRİ H. S. , ÇIKI K. , YÜCEL YILMAZ D. , GÜRSES CİLA H. E. , ÖZGÜL R. K. , TOKATLI A. , et al.
SSIEM 2019: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rotterdam, Netherlands, 3 - 06 September 2019, vol.42, pp.324
2017
2017The clinical, biochemical features, and mutational analyses in glutaric acid type 1 patients
BİLGİNER GÜRBÜZ B. , YILDIZ Y. , GOKSOY E., YÜCEL YILMAZ D. , DURSUN A. , TOKATLI A. , et al.
International Congress of Inborn Errorsof Metabolism - ICIEM 2017, 5 - 08 September 2017, vol.5
2016
2016pontocerebellar hypoplasia type 6 a case with meonatal seizures hypotonia and microcephaly diagnosed by exome sequencing
DURSUN A. , sedaroğlu e., ÖZGÜL R. K. , YÜCEL YILMAZ D. , YALNIZOĞLU D.
SSIEM roma, 6 - 09 September 2016
2016
2016ethymelanonic encephaopathy without etilmelanoc acitüria
YÜCEL YILMAZ D. , ÖZGÜL R. K. , PEKTAŞ E. , SERDARDĞLu e., YALNIZOĞLU D. , DURSUN A.
SSIEM ROMA, 6 - 09 September 2016
2016
2016FONKSİYONEL ÇALIŞMALAR Genetik uzmanlar için yeni nesil dizileme Kursu
YÜCEL YILMAZ D.
3. Nörometabolik Dismorfoloji Sempozyumu, Turkey, 10 - 12 March 2016
2015
2015SNX14 Sorting Nexin 14 gene mutation causes a new syndromic form of cerebellar atrophy in a Turkish family
ÖZGÜL R. K. , YÜCEL YILMAZ D. , Ömer g., YALNIZOĞLU D. , Mahmut s., DURSUN A.
SSIEM, 4 - 07 September 2015
2015
2015Rhizomelic chondrodysplasia punctata type II a case diagnosed by whole exome sequencing
DURSUN A. , PEKTAŞ E. , YÜCEL YILMAZ D. , ÖZGÜL R. K.
SSIEM, 4 - 07 September 2015
2015
2015Mutation screening study in Turkish patients with L 2 hydroxyglutaric aciduria
YÜCEL YILMAZ D. , ÖZGÜL R. K. , Özlem u., COŞKUN T. , SİVRİ H. S. , TOKATLI A. , et al.
SSIEM, 4 - 07 September 2015
2015
2015Splicing mutation in aminophospholipid transporter protein ATP8A2 in a Turkish family
DURSUN A. , YALNIZOĞLU D. , YÜCEL YILMAZ D. , serdaroğlu E., Unal Ö., görmez Z., et al.
SSIEM, 4 - 06 September 2015
2015
2015Exome sequencing results in unknown genetic metabolic neurometabolic disorders
KILIÇ M., ÖZGÜL R. K. , KILIÇ E. , YÜCEL YILMAZ D. , KAVAK P. , YUCETURK B., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 September 2015
2015
2015A case of fucosidosis with a new mutation in FUCA1 gene
PEKTAŞ E. , YÜCEL YILMAZ D. , ÖZGÜL R. K. , DURSUN A.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 September 2015
2015
2015Galactosemia case with a novel mutation
KILIÇ M., ZENCİROĞLU A., GÖKSUN E., YÜCEL YILMAZ D. , ÖZGÜL R. K.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM, 1 - 04 September 2015
2015
2015Vacuolar storage material in a family with juvenile parkinsonism andmutations in FBXO7
ESRA S., ÖZGÜL R. K. , YALNIZOĞLU D. , MADEO M., MALANDRİNİ A., KLEE E., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 September 2015
2015
2015Hereditary spastic paraplegia with predominant cerebel lar signs due to KIF1C mutation in two brothers
ÖZGÜL R. K. , Esra s., YALNIZOĞLU D. , YÜCEL YILMAZ D. , TOPÇU M. , ZZ G., et al.
SSIEM, 4 - 07 September 2015
Books & Book Chapters
2011
2011Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.
KILIÇ M., ÖZGÜL R. K. , COŞKUN T. , YÜCEL YILMAZ D. , KARACA M., SİVRİ H. S. , et al.
in: JIMD Reports Case and Research Reports 2011 3, , Editor, SPRINGER, 2011
Supported Projects
2017 - 2017
2017 - 2017NÖROMETABOLİK HASTALIK TANISI İLE İZLENEN BİR AİLEDE EKZOM VERİLERİNİN DEĞERLENDİRİLMESİ VE SORUMLU GENİN TANIMLANMASI
Project Supported by Higher Education Institutions
YÜCEL YILMAZ D. (Executive)
2016 - 2017
2016 - 2017MUHTEMEL ALPS TANISI ALAN HASTALARDA FAS GEN EKSPRESYONU TAYİNİ
Project Supported by Higher Education Institutions
TAN Ç. (Executive) , ÖZBEK B., KARAPINAR Ö., TEZCAN F. İ. , ÇAĞDAŞ AYVAZ D. N. , YÜCEL YILMAZ D.
2016 - 2017
2016 - 2017Primer Antikor Eksikliğine İlişkin Genetik Hastalıkların Yeni Nesil Dizileme Yöntemiyle Taranması
Project Supported by Higher Education Institutions
TAN Ç. (Executive) , ÇAĞDAŞ AYVAZ D. N. , TEZCAN F. İ. , YÜCEL YILMAZ D. , ÖZBEK B.
2016 - 2016
2016 - 2016