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Tarja Linnankivi

University of Helsinki(FI)

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72

Papers

4.6K

Citations

31

h-index

42

i10-index

Tarja Linnankivi is an academic researcher from University of Helsinki. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Epilepsy research and treatment. The author has an h-index of 31, co-authored 62 publications.

ORCID: 0000-0001-9190-2218

Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Epilepsy research and treatment Genomic variations and chromosomal abnormalities RNA regulation and disease

Papers by this author

works

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

2015 · American Journal of Medical Genetics Part A · 601 citations

https://doi.org/10.1002/ajmg.a.36887

Yanick J. Crow Diana Chase Johanna L. Schmidt Marcin Szynkiewicz

De novo variants in neurodevelopmental disorders with epilepsy

2018 · Nature Genetics · 312 citations

https://doi.org/10.1038/s41588-018-0143-7

Henrike Heyne Tarjinder Singh Hannah Stamberger Rami Abou Jamra

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

2015 · Nature Genetics · 265 citations

https://doi.org/10.1038/ng.3239

Steffen Syrbe Ulrike B. S. Hedrich Erik Riesch Tania Djémié

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

2017 · Journal of Medical Genetics · 249 citations

https://doi.org/10.1136/jmedgenet-2016-104509

Konrad Platzer Hongjie Yuan Hannah M. Schutz Alexander Winschel

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

2023 · Nature Genetics · 189 citations

https://doi.org/10.1038/s41588-023-01485-w

Remi Stevelink Ciarán Campbell Siwei Chen Bassel Abou‐Khalil

Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

2018 · Epilepsia · 147 citations

https://doi.org/10.1111/epi.13986

Katrine M. Johannesen Elena Gardella Tarja Linnankivi Carolina Courage

Research topics

topics

Genetics and Neurodevelopmental Disorders

Genomics and Rare Diseases

Epilepsy research and treatment

Genomic variations and chromosomal abnormalities

RNA regulation and disease

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