Stephani, Ulrich

Top Publications

Top Publications Authored or Co-Authored by "Stephani, Ulrich"

• Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

  Genetics in Medicine, Volume 22, No. 9, Year 2020, Citations 99
• Effect of anticonvulsive treatment on neuropsychological performance in children with BECTS

  European Journal of Paediatric Neurology, Volume 20, No. 6, Year 2016, Citations 21
• Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology

  Acta Neurologica Scandinavica, Volume 138, No. 6, Year 2018, Citations 4
• GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

  Nature Genetics, Volume 55, No. 9, Year 2023, Citations 3
• Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

  Nature Communications, Volume 14, No. 1, Article 4392, Year 2023, Citations 2