Yayınlar & Eserler

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

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) identifier identifier

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) Sürdürülebilir Kalkınma identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

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) Creative Commons License identifier identifier identifier

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) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

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) Creative Commons License identifier identifier identifier

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

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

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

Metrikler

Yayın

19

Atıf (WoS)

183

H-İndeks (WoS)

6

Atıf (Scopus)

198

H-İndeks (Scopus)

7

Proje

7

Açık Erişim

14
BM Sürdürülebilir Kalkınma Amaçları