Foundation for People with Rare Diseases

Clinical sequencing: is WGS the better WES?

Janine Meienberg, Rémy Bruggmann, Konrad Oexle et al. · Human Genetics · 2016 · 358 citations · Full text

New insights into the performance of human whole-exome capture platforms

Janine Meienberg, K. Žerjavic, Irene Keller et al. · Nucleic Acids Research · 2015 · 141 citations · Full text

Engineering, Genetics, Molecular Biology +21

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes

Sylvan M. Caspar, Timo Schneider, Janine Meienberg et al. · International Journal of Molecular Sciences · 2020 · 50 citations · Full text

Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers–Danlos syndrome

Nicolo Dubacher, Justyna Münger, Maria C Gorosabel et al. · Cardiovascular Research · 2019 · 40 citations · Full text

Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

Roland Stengl, András Bors, Bence Ágg et al. · Orphanet Journal of Rare Diseases · 2020 · 38 citations · Full text