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Biomed Research International|August 24, 2013
Cloud prediction of protein structure and function with PredictProtein for DebianLászló Kaján, Guy Yachdav, Esmeralda Vicedo, et al.Nature Protocols|January 19, 2021
Detection of aberrant gene expression events in RNA sequencing dataVicente A Yépez, Christian Mertes, Michaela F Müller, et al.Scientific Reports|November 15, 2018
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutationBeate Hagl, Benedikt D Spielberger, Silvia Thoene, et al.F1000Research|September 30, 2024
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant callingFriederike Hanssen, Gisela Gabernet, Famke Bäuerle, et al.Nature Genetics|April 4, 2017
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytesMaximilian Witzel, Daniel Petersheim, Yanxin Fan, et al.Nature Communications|June 13, 2017
Genetic diagnosis of Mendelian disorders via RNA sequencingLaura S Kremer, Daniel M Bader, Christian Mertes, et al.Annals of Neurology|February 2, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia CohortAlice Saparov, Ivana Dzinovic, Theresa Brunet, et al.American Journal of Human Genetics|December 20, 2016
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe EncephalopathySamira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gusic, et al.Genome Medicine|April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.Nature Genetics|September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare diseaseVicente A Yépez, German Demidov, Kornelia Ellwanger, et al.Pageof 3