Tarja Linnankivi
University of Helsinki(FI)Helsinki Children's Hospital(FI)Hospital District of Helsinki and Uusimaa(FI)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Epilepsy research and treatment, Genomic variations and chromosomal abnormalities, RNA regulation and disease
Most-Cited Works
- → Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)601 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
- → De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy(2015)268 cited
- → GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects(2017)252 cited
- → De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome(2013)220 cited