Peter M. van Hasselt

Prime editing for functional repair in patient-derived disease models

Imre F. Schene, Indi P. Joore, Rurika Oka et al. · Nature Communications · 2020 · 229 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

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 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Glen R. Monroe, G. W. J. Frederix, Sanne M. C. Savelberg et al. · Genetics in Medicine · 2016 · 185 citations · Full text

Life Sciences, Genetics, Pediatrics +16

Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass‐spectrometry

Hubertus C.M.T. Prinsen, Birgit G. M. Schiebergen-Bronkhorst, Martin W. Roeleveld et al. · Journal of Inherited Metabolic Disease · 2016 · 181 citations · Full text

Pharmacy, Biochemistry, Analytical Chemistry +16

Loss of Syntaxin 3 Causes Variant Microvillus Inclusion Disease

Caroline L. Wiegerinck, Andreas Janecke, Kerstin Schneeberger et al. · Gastroenterology · 2014 · 174 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9