Tommy Stödberg
Karolinska University Hospital(SE)Karolinska Institutet(SE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Metabolism and Genetic Disorders
Most-Cited Works
- → A de novo gain-of-function mutation in SCN11A causes loss of pain perception(2013)302 cited
- → Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients(2021)258 cited
- → Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures(2015)177 cited
- → Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome(2014)175 cited
- → A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT(2013)121 cited
- → Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy(2012)117 cited