Guido Vogt

Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

Guido Vogt, Sarah Verheyen, Sarina Schwartzmann et al. · Journal of Medical Genetics · 2021 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions

Miguel Rodríguez de los Santos, Marion Rivalan, Friederike S. David et al. · Proceedings of the National Academy of Sciences · 2021 · 15 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease

Maya M. Polovitskaya, Tanushka Rana, Kurt Ullrich et al. · Journal of Biological Chemistry · 2024 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification and characterization of a phage display-derived peptide for orthopoxvirus detection

Lilija Miller, Janine Michel, Guido Vogt et al. · Analytical and Bioanalytical Chemistry · 2014 · 13 citations

Life Sciences, Microbiology, Molecular Biology +13

Expanding the clinical and molecular spectrum of <scp><i>ATP6V1A</i></scp> related metabolic cutis laxa

Guido Vogt, Naji El Choubassi, Ágnes Herczegfalvi et al. · Journal of Inherited Metabolic Disease · 2020 · 13 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17