Jolien Roovers

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

Gemma L. Carvill, Krysta L. Engel, Aishwarya Ramamurthy et al. · The American Journal of Human Genetics · 2018 · 122 citations · Full text

Life Sciences, Genetics, Neuroscience +15

<i>NBEA</i>: Developmental disease gene with early generalized epilepsy phenotypes

Maureen Mulhern, Constance T. R. M. Stumpel, Nicholas Stong et al. · Annals of Neurology · 2018 · 57 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Charles A. Steward, Jolien Roovers, Marie‐Marthe Suner et al. · npj Genomic Medicine · 2019 · 40 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Brain volumetric alterations accompanied with loss of striatal medium-sized spiny neurons and cortical parvalbumin expressing interneurons in Brd1+/− mice

Per Qvist, Simon Fristed Eskildsen, Brian Hansen et al. · Scientific Reports · 2018 · 23 citations · Full text

Medicine, Neurobiology, Neuroscience +17

<i>De novo FZR1</i> loss-of-function variants cause developmental and epileptic encephalopathies

Sathiyanarayanan Manivannan, Jolien Roovers, Noor Smal et al. · Brain · 2021 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17