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Tommy Stödberg

Karolinska University Hospital(SE)

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50

Papers

2.7K

Citations

22

h-index

24

i10-index

Tommy Stödberg is an academic researcher from Karolinska University Hospital. The author has contributed to research in topics: Genomics and Rare Diseases & Epilepsy research and treatment & Genetics and Neurodevelopmental Disorders. The author has an h-index of 22, co-authored 43 publications.

ORCID: 0000-0003-1242-5260

Research Topics

Genomics and Rare Diseases Epilepsy research and treatment Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities Metabolism and Genetic Disorders

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

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

2021 · Genome Medicine · 253 citations

https://doi.org/10.1186/s13073-021-00855-5

Henrik Stranneheim Kristina Lagerstedt‐Robinson Måns Magnusson Malin Kvarnung

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

2015 · Nature Communications · 175 citations

https://doi.org/10.1038/ncomms9038

Tommy Stödberg Amy McTague Arnaud Ruiz Hiromi Hirata

Additional file 2 of Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

2021 · Figshare · 0 citations

https://doi.org/10.6084/m9.figshare.14228416

Henrik Stranneheim Kristina Lagerstedt‐Robinson Måns Magnusson Malin Kvarnung

Additional file 3 of Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

2021 · Figshare · 0 citations

https://doi.org/10.6084/m9.figshare.14228419

Henrik Stranneheim Kristina Lagerstedt‐Robinson Måns Magnusson Malin Kvarnung

Phenotypic and transcriptomic characterisation of a novel biallelic <i>RNU2-2</i> developmental and epileptic encephalopathy

2026 · medRxiv · 0 citations

https://doi.org/10.64898/2026.02.19.26345867

Olivia J. Henry Nadja Pekkola Pacheco Irene Duba Magnus Burstedt

Research topics

topics

Genomics and Rare Diseases

Epilepsy research and treatment

Genetics and Neurodevelopmental Disorders

Genomic variations and chromosomal abnormalities

Metabolism and Genetic Disorders

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