Sofia Thunström

Dravet syndrome in children—A population-based study

Björn Bjurulf, Colin Reilly, Gudmundur Vignir Sigurdsson et al. · Epilepsy Research · 2022 · 28 citations · Full text

Medicine, Neurology, Pediatrics +17

UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassing <i>UBE2A</i> gene

Sofia Thunström, Liv Sodermark, Liz Ivarsson et al. · American Journal of Medical Genetics Part A · 2014 · 23 citations

Life Sciences, Genetics, Molecular Genetics +16

Aortic size predicts aortic dissection in Turner syndrome - A 25-year prospective cohort study

Sofia Thunström, Erik Thunström, Sabine Naessén et al. · International Journal of Cardiology · 2022 · 22 citations · Full text

Medicine, Cardiology, Internal Medicine +17

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Jesper Eisfeldt, Adam Ameur, Felix Lenner et al. · Genome Research · 2024 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Leukoencephalopathia, demyelinating peripheral neuropathy and dural ectasia explained by a not formerly described de novo mutation in the SAMD9L gene, ends 27 years of investigations – a case report

Sofia Thunström, Markus Axelsson · BMC Neurology · 2019 · 11 citations · Full text

Life Sciences, Genetics, Neurology +17