Ozge Aksel-Kilicarslan
Research Associate
Email OzgeOzge earned her MD degree from Ege University in 2011 and completed her Medical Genetics residency in 2016 at Dokuz Eylul University. She has a research interest in neurogenetics and investigated the role of Tubulin genes in the etiology of malformations of cortical development as a thesis project.
After working as a staff clinical geneticist in Turkey, she joined Dr. Lochmuller’s team as a research associate in October 2022.
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Recent publications
Estévez-Arias, B, Matalonga, L, Yubero, D, Polavarapu, K, Codina, A, Ortez, C et al.. Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Eur J Hum Genet. 2024. PMID:39333429
Martinez-Rios, C, De Leon Benedetti, LS, Tierradentro-Garcia, LO, Kilicarslan, OA, Caro-Dominguez, P, Otero, HJ et al.. Imaging findings of children with PTEN-related hamartoma tumor syndrome: a 20-year multicentric pediatric cohort. Pediatr Radiol. 2024.54 (7)1116-1127 PMID:38644431
Aksel Kiliçarslan, Ö, Ataman, E, Gürsoy, S, Gürbüz, G, Ünalp, A, Gençpinar, P et al.. Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development. Turk J Med Sci. 2020.50 (6)1573-1579 PMID:32718119
Aksel Kılıçarslan, Ö, Ataman, E, Gürsoy, S, Hazan, F, Randa, C, Çankaya, T et al.. Phenotypic spectrum of CHARGE syndrome based on clinical characteristics. Turk J Med Sci. 2018.48 (5)911-915 PMID:30384553
Kose, S, Cımrın, D, Yıldırım, N, Aksel, O, Keskinoglu, P, Bora, E et al.. Analysis of first-trimester combined test results in preparation for a cell-free fetal DNA era. Int J Gynaecol Obstet. 2016.135 (2)187-191 PMID:27569022
Giray Bozkaya, O, Ataman, E, Aksel Kilicarslan, O, Cankaya, T, Ulgenalp, A. Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia. Mol Med Rep. 2016.14 (3)2150-4 PMID:27431685
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