Yayınlar & Eserler

Yayın Ağı
Makaleler 23
Tümü (23)
SCI-E, SSCI, AHCI (23)
SCI-E, SSCI, AHCI, ESCI (23)
Scopus (23)
TRDizin (3)

1. Extreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case Series

Aksu 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) Creative Commons License identifier identifier identifier

2. Alu-Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect

DURMAZ ÖZDİNÇ C. D., GÜMRÜK F., Celkan T., Unal S., ÇETİNKAYA A.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , 2024 (SCI-Expanded, Scopus) identifier identifier identifier

3. Monogenic Renal Calcium-Wasting Hypercalciuria: Unraveling TRPV5 as the Cause of a Novel Mendelian Disorder

GÜLERAY 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) identifier

4. Monogenic Renal Calcium-Wasting Hypercalciuria: Unraveling TRPV5 as the Cause of a Novel Mendelian Disorder

GÜLERAY 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) identifier

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) identifier

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) identifier

7. Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria

GÜLERAY LAFCI N., van Goor M., Cetinkaya S., van der Wijst J., Acun M., Kurt Colak F., et al.
European Journal of Human Genetics , 2024 (SCI-Expanded, Scopus) identifier identifier identifier

8. Defining mitochondrial protein functions through deep multiomic profiling

Rensvold 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) Sürdürülebilir Kalkınma identifier identifier identifier

9. HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

O'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) Creative Commons License identifier identifier identifier

10. One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family

Bekircan-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) identifier identifier identifier

11. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

Wong 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) Creative Commons License identifier identifier identifier

12. Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives

Pekgul 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) Creative Commons License identifier identifier identifier

13. Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg

Cetinkaya A., Karaman A., Mutlu M. B., Yavuz T.
CONGENITAL ANOMALIES , cilt.58, sa.1, ss.41-43, 2018 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

14. Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome

Çetinkaya 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) Creative Commons License identifier identifier identifier

15. A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus

Mutlu 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) Creative Commons License identifier identifier identifier

16. Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling

Cetinkaya 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) Creative Commons License identifier identifier identifier

17. Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases

Ünal D., Ünal M. F., Alikaşifoğlu M., Cetinkaya A.
PSYCHIATRY INVESTIGATION , cilt.13, sa.4, ss.427-433, 2016 (SCI-Expanded, SSCI, Scopus) Creative Commons License identifier identifier identifier

18. A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome

Kılıç E., Cetinkaya A., Ütine G. E., Boduroǧlu K.
Journal of Child Neurology , cilt.31, sa.7, ss.913-917, 2016 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

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 defects

Aydin 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) Creative Commons License identifier identifier identifier

20. DNA damage is increased in lymphocytes of patients with metabolic syndrome

Karaman 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) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

21. Etiological yield of SNP microarrays in idiopathic intellectual disability

Ütine 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) Creative Commons License identifier identifier identifier

22. A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy

Ütine 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) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

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) Creative Commons License identifier identifier identifier
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 2

1. In vitro Translasyon ile Ribozom İşlev Tayini

KILIÇ H. B., ÇETİNKAYA A., AKARSU A. N., KOCAEFE Y. Ç.
26. Ulusal Tıbbi Biyoloji ve Genetik Kongresi 2021, Türkiye, 28 - 31 Ekim 2021, cilt.1, ss.277-278, (Tam Metin Bildiri)

2. Dismorfik Bulguları ve Selektif IgA Eksikliği Tanısıyla İzlenen Monozomi 18p Olgusu

ZENGİN 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)
Metrikler

Yayın

25

Yayın (WoS)

23

Yayın (Scopus)

23

Atıf (WoS)

186

H-İndeks (WoS)

7

Atıf (Scopus)

206

H-İndeks (Scopus)

7

Atıf (Scholar)

62

H-İndeks (Scholar)

1

Proje

7

Açık Erişim

15
BM Sürdürülebilir Kalkınma Amaçları