Pia Zacher

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

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 146 citations · Full text

Life Sciences, Genetics, Neuroscience +17

KDM5A mutations identified in autism spectrum disorder using forward genetics

Lauretta El Hayek, İslam Oğuz Tuncay, Nadine Nijem et al. · eLife · 2020 · 63 citations · Full text

Life Sciences, Genetics, Neuroscience +16

The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals

Pia Zacher, Frank Brandhoff, Tobias Bartolomaeus et al. · Genetics in Medicine · 2021 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 49 citations · Full text

Medicine, Genetics, Molecular Genetics +13