Manuela Pendziwiat
Christian-Albrechts-Universität zu Kiel(DE)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Epilepsy research and treatment, Ion channel regulation and function, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → De novo variants in neurodevelopmental disorders with epilepsy(2018)312 cited
- → Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals(2019)299 cited
- → Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2(2019)164 cited
- → Defining the phenotypic spectrum of SLC6A1 mutations(2018)147 cited
- → Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications(2021)140 cited
- → CHD2variants are a risk factor for photosensitivity in epilepsy(2015)136 cited
- → A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy(2019)130 cited
- → Novel septin 9 repeat motifs altered in neuralgic amyotrophy bind and bundle microtubules(2013)121 cited
- → Mutations in GABRB3(2017)113 cited
- → DNM1 encephalopathy(2017)109 cited