Marijke R. Wevers

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 80 citations · Full text

Down Syndrome, Deletion Syndrome, Developmental Biology +11

Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines

Cindy Chau, Remco van Doorn, Natasha M. van Poppelen et al. · Cancers · 2019 · 58 citations · Full text

Genetic Testing, Cancer Pathology, Genetics +21

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Lindsey D. Goodman, Heidi Cope, Zelha Nil et al. · The American Journal of Human Genetics · 2021 · 45 citations · Full text

Developmental Biology, Molecular Neuroscience, Human Developmental Delays +10

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta et al. · Genetics in Medicine · 2021 · 43 citations · Full text

Breast cancer genetic counseling after diagnosis but before treatment: A pilot study on treatment consequences and psychological impact

Marijke R. Wevers, Daniela Hahn, Senno Verhoef et al. · Patient Education and Counseling · 2012 · 39 citations