Urania Kotzaeridou

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

Michaela Frye, Richard Durbin, Holger Prokisch, 2016, Nature Communications.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Thomas Meitinger, Julien Gagneur, Holger Prokisch, 2015, American journal of human genetics.

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

Roland Eils, Stefan Wiemann, Ute Moog, 2017, Molecular genetics and metabolism.