Julie W. Rutten

Archetypal <i>NOTCH3</i> mutations frequent in public exome: implications for CADASIL

Julie W. Rutten, Hans G. Dauwerse, Gido Gravesteijn et al. · Annals of Clinical and Translational Neurology · 2016 · 204 citations · Full text

Life Sciences, Molecular Genetics, Neurology +15

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

Julie W. Rutten, Bastian J. Van Eijsden, Marco Duering et al. · Genetics in Medicine · 2018 · 166 citations · Full text

Life Sciences, Molecular Genetics, Pathology +14

Broad phenotype of cysteine-altering <i>NOTCH3</i> variants in UK Biobank

Julie W. Rutten, Remco J. Hack, Marco Duering et al. · Neurology · 2020 · 97 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping:<i>in vitro</i>proof of concept

Julie W. Rutten, Hans G. Dauwerse, Dorien J.M. Peters et al. · Brain · 2016 · 61 citations · Full text

Life Sciences, Genetics, Neurology +15

Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction

Remco J. Hack, Gido Gravesteijn, Minne N. Cerfontaine et al. · Brain · 2022 · 53 citations · Full text

Life Sciences, Molecular Genetics, Neurology +17