Ozge Aksel-Kilicarslan

PhD Student

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Ozge earned her MD degree from Ege University in Turkey 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. Hanns Lochmüller’s team at CHEO RI as a research coordinator in October 2022. Ozge started her PhD in Cellular and Molecular Medicine at the University of Ottawa with a specialization in Human and Molecular Genetics under the co-supervision of Dr. Polavarapu and Dr. Lochmüller in September 2025. Her research focuses on uncovering the genetic causes of unsolved neuromuscular disorders.

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Recent publications

Pauper, M, Kölbel, H, Karakesisoglou, I, Schänzer, A, Böhm, J, Thompson, R et al.. A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies. Brain Pathol. 2026. e70082 PMID:41776713

Kilicarslan, OA, Gangfuß, A, Hentschel, A, Kölbel, H, Muhmann, D, Töpf, A et al.. A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia. Clin Genet. 2026.109 (5)978-983 PMID:41498167

Yépez, VA, Demidov, G, Ellwanger, K, Laurie, S, Luknárová, R, Joseph Maran, MI et al.. Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease. Nat Genet. 2026.58 (1)231 PMID:41495481

Aksel Kilicarslan, O, Gangfuß, A, Kölbel, H, Muhmann, D, Polavarapu, K, Thompson, R et al.. Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report. J Clin Med. 2025.14 (24) PMID:41464539

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

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