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Ass.-Prof. Dr.

Arda Çetinkaya

Medical Genetics · Onkologische Klinik

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Publications

Source: Hacettepe University academic database (AVESİS) · All publications (26) ↗

Articles 23

  1. Alu-Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder EffectDURMAZ ÖZDİNÇ C. D., GÜMRÜK F., Celkan T., Unal S., ÇETİNKAYA A.AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.197, sa.4, 2025 (SCI-Expanded, Scopus)
  2. Extreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case SeriesAksu M. D., ÖZEN S., AKSU T., GÜREL A., ÇETİNKAYA A., Unal S.TURKISH JOURNAL OF HEMATOLOGY, cilt.42, sa.1, ss.61-64, 2025 (SCI-Expanded, Scopus, TRDizin)
  3. Monogenic Renal Calcium-Wasting Hypercalciuria: Unraveling TRPV5 as the Cause of a Novel Mendelian DisorderGÜLERAY LAFCI N., van Goor M., Cetinkaya S., van der Wijst J., Acun M., Colak F. K., et al.EUROPEAN JOURNAL OF HUMAN GENETICS, ss.1352-1353, 2024 (SCI-Expanded, Scopus)
  4. Monogenic Renal Calcium-Wasting Hypercalciuria: Unraveling TRPV5 as the Cause of a Novel Mendelian DisorderGÜLERAY LAFCI N., van Goor M., Cetinkaya P. D. S., van der Wijst J., Acun M., Colak F. K., et al.EUROPEAN JOURNAL OF HUMAN GENETICS, ss.1352-1353, 2024 (SCI-Expanded, Scopus)
  5. A novel pathogenic PTRH2 variant indicates seizure association with protein-truncating variants in Infantile-Onset Multisystem Neurologic, Endocrine and Pancreatic Disease (IMNEPD)AKÇİN Ö. Ç., KURTÇU O., DERİCİOĞLU N., ERDEM ÖZDAMAR S., KURT C. E., ALTINER Ş., et al.EUROPEAN JOURNAL OF HUMAN GENETICS, ss.1494, 2024 (SCI-Expanded, Scopus)
  6. A novel pathogenic PTRH2 variant indicates seizure association with protein-truncating variants in Infantile-Onset Multisystem Neurologic, Endocrine and Pancreatic Disease (IMNEPD)AKÇİN Ö. Ç., KURTÇU O., DERİCİOĞLU N., ERDEM ÖZDAMAR S., KURT C. E., ALTINER Ş., et al.EUROPEAN JOURNAL OF HUMAN GENETICS, ss.1494, 2024 (SCI-Expanded, Scopus)
  7. Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuriaGÜLERAY LAFCI N., van Goor M., Cetinkaya S., van der Wijst J., Acun M., Kurt Colak F., et al.European Journal of Human Genetics, cilt.32, sa.11, ss.1506-1514, 2024 (SCI-Expanded, Scopus)
  8. Defining mitochondrial protein functions through deep multiomic profilingRensvold J. W., Shishkova E., Sverchkov Y., Miller I. J., ÇETİNKAYA A., Pyle A., et al.NATURE, cilt.606, sa.7913, ss.382-388, 2022 (SCI-Expanded, Scopus)
  9. HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemiaO'Donohue M., Da Costa L., Lezzerini M., Unal S., Joret C., Bartels M., et al.Blood, cilt.139, sa.21, ss.3111-3126, 2022 (SCI-Expanded, Scopus)
  10. One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous FamilyBekircan-Kurt C. E., ÇETİNKAYA A., GÖÇMEN R., KOŞUKCU C., Soylemezoglu F., ARSAVA E. M., et al.JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, cilt.30, sa.9, 2021 (SCI-Expanded, Scopus)
  11. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathyWong H. H., Seet S. H., Maier M., GÜREL A., Traspas R. M., Lee C., et al.AMERICAN JOURNAL OF HUMAN GENETICS, cilt.108, sa.7, ss.1301-1317, 2021 (SCI-Expanded, Scopus)
  12. Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relativesPekgul F., Eroglu-Ertugrul N. G., Bekircan-Kurt C. E., Erdem-Ozdamar S., Cetinkaya A., Tan E., et al.MOLECULAR GENETICS AND METABOLISM REPORTS, cilt.25, 2020 (SCI-Expanded, Scopus)
  13. Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672ArgCetinkaya A., Karaman A., Mutlu M. B., Yavuz T.CONGENITAL ANOMALIES, cilt.58, sa.1, ss.41-43, 2018 (SCI-Expanded, Scopus)
  14. Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndromeÇetinkaya A., Taşkıran E., Soyer T., Şimşek-Kiper P., Utine G., Tunçbilek G., et al.TURKISH JOURNAL OF PEDIATRICS, cilt.59, sa.6, ss.619-624, 2017 (SCI-Expanded, Scopus, TRDizin)
  15. A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetusMutlu M. B., Cetinkaya A., Koc N., Ceylaner G., Erguner B., Aydin H., et al.EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.59, sa.11, ss.604-606, 2016 (SCI-Expanded, Scopus)
  16. Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 SignalingCetinkaya A., Xiong J. R., Vargel İ., Kösemehmetoğlu K., Canter H. I., Gerdan O. F., et al.AMERICAN JOURNAL OF HUMAN GENETICS, cilt.99, sa.2, ss.299-317, 2016 (SCI-Expanded, Scopus)
  17. Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant CasesÜnal D., Ünal M. F., Alikaşifoğlu M., Cetinkaya A.PSYCHIATRY INVESTIGATION, cilt.13, sa.4, ss.427-433, 2016 (SCI-Expanded, SSCI, Scopus)
  18. A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson SyndromeKılıç E., Cetinkaya A., Ütine G. E., Boduroǧlu K.Journal of Child Neurology, cilt.31, sa.7, ss.913-917, 2016 (SCI-Expanded, Scopus)
  19. Evaluation of maternal serum folate, vitamin B12, and homocysteine levels and factor V Leiden, factor II g.20210G > A, and MTHFR variations in prenatally diagnosed neural tube defectsAydin H., Arisoy R., Karaman A., Erdogdu E., Cetinkaya A., Geçkinli B. B., et al.TURKISH JOURNAL OF MEDICAL SCIENCES, cilt.46, sa.2, ss.489-494, 2016 (SCI-Expanded, Scopus, TRDizin)
  20. DNA damage is increased in lymphocytes of patients with metabolic syndromeKaraman A., Aydin H., Geckinli B., Cetinkaya A., Karaman S.MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS, cilt.782, ss.30-35, 2015 (SCI-Expanded, Scopus)
  21. Etiological yield of SNP microarrays in idiopathic intellectual disabilityÜtine G. E., Halıloglu G., Volkan-Salancı B., Cetinkaya A., Kıper P. O., Alanay Y., et al.EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.18, sa.3, ss.327-337, 2014 (SCI-Expanded, Scopus)
  22. A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and AtrophyÜtine G. E., Haliloglu G., Volkan Salancı B., Çetinkaya A., Şimşek Kiper P. Ö., Alanay Y., et al.JOURNAL OF CHILD NEUROLOGY, cilt.28, sa.7, ss.926-932, 2013 (SCI-Expanded, Scopus)
  23. The effect of colchicine on pyrin and pyrin interacting proteins.Taskiran E. Z., Cetinkaya A., Balci-Peynircioglu B., Akkaya Y. Z., Yilmaz E.Journal of cellular biochemistry, cilt.113, sa.11, ss.3536-46, 2012 (SCI-Expanded, Scopus)

Conference papers 2

  1. Dismorfik Bulguları ve Selektif IgA Eksikliği Tanısıyla İzlenen Monozomi 18p OlgusuZENGİN AKKUŞ P., ÇETİNKAYA A., ÇAĞDAŞ AYVAZ D. N., ALİKAŞİFOĞLU M., ALİKAŞİFOĞLU A., KANDEMİR N., et al.2. Klinik İmmünoloji Kongresi, Antalya, Türkiye, 31 Mart - 03 Nisan 2016, (Özet Bildiri)
  2. In vitro Translasyon ile Ribozom İşlev TayiniKILIÇ H. B., ÇETİNKAYA A., AKARSU A. N., KOCAEFE Y. Ç.

Kitaplar 1

  1. The ALX Homeobox Gene Family and Frontonasal DysplasiasÇetinkaya A., Akarsu A. N.

Kontakt

Department
Medical Genetics, Onkologische Klinik

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