Hiltrud Muhle
Publications by Year
Research Areas
Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Neuroscience and Neuropharmacology Research
Most-Cited Works
- → Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders(2017)566 cited
- → 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy(2009)555 cited
- → Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies(2018)499 cited
- → Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies(2010)476 cited
- → Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies(2009)448 cited
- → Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes(2013)437 cited
- → De novo variants in neurodevelopmental disorders with epilepsy(2018)312 cited
- → STXBP1 encephalopathy(2016)310 cited
- → Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals(2019)299 cited
- → The phenotypic spectrum of SCN8A encephalopathy(2015)283 cited