Silvia Lechner

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

Thomas Müller, Michael W. Hess, Natalia Schiefermeier-Mach et al. · Nature Genetics · 2008 · 377 citations

Life Sciences, Cell Biology, Genetics +10

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

Andreas Janecke, Peter Heinz‐Erian, Jianyi Yin et al. · Human Molecular Genetics · 2015 · 134 citations

Life Sciences, Genetics, Molecular Genetics +16

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model

Frank M. Ruemmele, Thomas Müller, Natalia Schiefermeier-Mach et al. · Human Mutation · 2010 · 131 citations · Full text

Life Sciences, Cell Biology, Genetics +10

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Jonathan Baets, Le­onardo Almeida-Souza, Els De Vriendt et al. · Nature Genetics · 2012 · 129 citations

Life Sciences, Neurology, Neuroscience +12

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome

Thomas Müller, Shuji Mizumoto, Indrajit Suresh et al. · Human Molecular Genetics · 2013 · 113 citations

Life Sciences, Biochemistry, Genetics +15