Matias Wagner

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 206 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa et al. · Nature Genetics · 2022 · 195 citations · Full text

Face Detection, Facial Recognition System, Medicine +4

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 184 citations · Full text

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Sarah L. Stenton, Claudia B. Catarino, N.A. Andreeva et al. · Journal of Clinical Investigation · 2021 · 144 citations · Full text

Opposite microglial activation stages upon loss of <scp>PGRN</scp> or <scp>TREM</scp> 2 result in reduced cerebral glucose metabolism

Julia K Götzl, Matthias Brendel, Georg Werner et al. · EMBO Molecular Medicine · 2019 · 127 citations · Full text