Thomas Dorn
Publications by Year
Research Areas
Epilepsy research and treatment, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Neuroscience and Neuropharmacology Research, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders(2017)566 cited
- → Targeted next generation sequencing as a diagnostic tool in epileptic disorders(2012)321 cited
- → De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy(2015)268 cited
- → Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes(2010)259 cited
- → The landscape of epilepsy-related GATOR1 variants(2018)237 cited
- → The spectrum ofWRNmutations in Werner syndrome patients(2006)223 cited
- → Delineating the GRIN1 phenotypic spectrum(2016)202 cited
- → Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes(2014)197 cited
- → Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A(2013)196 cited
- → Germline and mosaic mutations of FLN1 in men with periventricular heterotopia(2004)154 cited