Özkan Özdemir

A homozygous splice-site mutation in <i>CARS2</i> is associated with progressive myoclonic epilepsy

Kerstin Hallmann, Gábor Zsurka, Susanna Moskau‐Hartmann et al. · Neurology · 2014 · 69 citations

Making sense of missense variants in TTN-related congenital myopathies

Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa et al. · Acta Neuropathologica · 2021 · 61 citations · Full text

The genomic and clinical landscape of fetal akinesia

Matthias Pergande, Susanne Motameny, Özkan Özdemir et al. · Genetics in Medicine · 2019 · 54 citations · Full text

Developmental Anomaly, Genetic Disorder, Genetics +5

Expression changes of genes associated with apoptosis and survival processes in Parkinson’s disease

Nazlı Yalçınkaya, Hazal Haytural, Özkan Özdemir et al. · Neuroscience Letters · 2016 · 31 citations

Neurodegenerative Diseases, Survival Processes, Expression Changes +10

Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours

Daniel Bamborschke, Özkan Özdemir, Mona Kreutzer et al. · American Journal of Medical Genetics Part A · 2020 · 22 citations · Full text