Saskia B. Wortmann

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Kornelia Neveling, Ilse Feenstra, Christian Gilissen et al. · Human Mutation · 2013 · 336 citations · Full text

Exome Sequencing, Genetics, Genetic Epidemiology +23

Whole exome sequencing of suspected mitochondrial patients in clinical practice

Saskia B. Wortmann, David A. Koolen, Lambert den van Heuvel et al. · Journal of Inherited Metabolic Disease · 2015 · 237 citations · Full text

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

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Saskia B. Wortmann, Frédéric M. Vaz, Thatjana Gardeitchik et al. · Nature Genetics · 2012 · 205 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Mitochondrial Function +7

Next‐generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

Karlien L. M. Coene, Leo A. J. Kluijtmans, E. van der Heeft et al. · Journal of Inherited Metabolic Disease · 2018 · 199 citations · Full text

Metabolic Disorder, Metabolomic Profiling, Metabolic Syndrome +19