Charlotte de Konink

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Geeske M. van Woerden, Melanie Bos, Charlotte de Konink et al. · Human Mutation · 2021 · 63 citations · Full text

Brain Development, Developmental Cognitive Neuroscience, Neurodevelopment +23

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Frédéric Ebstein, Sébastien Küry, Victoria Most et al. · Science Translational Medicine · 2023 · 34 citations · Full text

Role of CAMK2D in neurodevelopment and associated conditions

Pomme M.F. Rigter, Charlotte de Konink, Matthew J. Dunn et al. · The American Journal of Human Genetics · 2024 · 31 citations · Full text

Developmental Biology, Molecular Neuroscience, Neurodevelopment +5

The <i>MAP3K7</i> gene: Further delineation of clinical characteristics and genotype/phenotype correlations

Geeske M. van Woerden, Richelle Senden, Charlotte de Konink et al. · Human Mutation · 2022 · 14 citations

Pro-mutagenic effects of the gut microbiota in a Lynch syndrome mouse model

Wietske Pieters, Floor Hugenholtz, Kevin Kos et al. · Gut Microbes · 2022 · 11 citations · Full text