Ozge Aksel-Kilicarslan
PhD Student
Email OzgeOzge earned her MD degree from Ege University and completed her Medical Genetics residency 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 coordinator in October 2022. She then started her PhD in Cellular and Molecular Biology at the University of Ottawa with a specialization in Human and Molecular Genetics under the supervision of Dr. Hanns Lochmüller. Her research focuses on uncovering the genetic causes of neuromuscular diseases.
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Recent publications
Yépez, VA, Demidov, G, Ellwanger, K, Laurie, S, Luknárová, R, Joseph Maran, MI et al.. The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease. Nat Genet. 2025.57 (10)2361-2370 PMID:40926087
Harkness, JR, McDermott, JH, Marsden, S, Jamieson, P, Metcalfe, KA, Khan, N et al.. Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series. Lancet Neurol. 2025.24 (8)667-680 PMID:40683276
Neuhoff, K, Kilicarslan, OA, Preuße, C, Zaum, AK, Kölbel, H, Lochmüller, H et al.. Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes. Biomedicines. 2024.12 (12) PMID:39767645
Estévez-Arias, B, Matalonga, L, Yubero, D, Polavarapu, K, Codina, A, Ortez, C et al.. Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Eur J Hum Genet. 2024. PMID:39658675
Demidov, G, Yaldiz, B, Garcia-Pelaez, J, de Boer, E, Schuermans, N, Van de Vondel, L et al.. Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. NPJ Genom Med. 2024.9 (1)49 PMID:39461972
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. 2025.33 (2)239-247 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
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