Katrien Stouffs

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek et al. · Genetics in Medicine · 2018 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +17

<scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

Tariq Zaman, Katherine L. Helbig, Jérôme Clatot et al. · Annals of Neurology · 2020 · 97 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Possible role of USP26 in patients with severely impaired spermatogenesis

Katrien Stouffs, Willy Lissens, Herman Tournaye et al. · European Journal of Human Genetics · 2004 · 89 citations

Life Sciences, Molecular Biology, Molecular Genetics +14

The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion

Katrien Stouffs, Willy Lissens, Herman Tournaye et al. · Human Reproduction · 2005 · 72 citations · Full text

Medicine, Genetics, Fertility +16

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Charlotte L. Alston, Alison G. Compton, Luke E. Formosa et al. · The American Journal of Human Genetics · 2016 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12