Manuela Pendziwiat

De novo variants in neurodevelopmental disorders with epilepsy

Henrike Heyne, Tarjinder Singh, Hannah Stamberger et al. · Nature Genetics · 2018 · 306 citations · Full text

Neurodevelopmental Disorders, Genetic Disorder, Neurology +5

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Mark Corbett, Thessa Kroes, Liana Veneziano et al. · Nature Communications · 2019 · 154 citations · Full text

Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi et al. · Epilepsia · 2018 · 146 citations · Full text

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 · 138 citations · Full text