Karit Reinson

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Laura Bryant, Dong Li, Samuel G. Cox et al. · Science Advances · 2020 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic <i>CACNA1A</i> mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

Karit Reinson, Eve Õiglane‐Shlik, Inga Talvik et al. · American Journal of Medical Genetics Part A · 2016 · 84 citations

Life Sciences, Genetics, Neurology +17

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans et al. · The American Journal of Human Genetics · 2021 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Elisabetta Flex, Simone Martinelli, Anke Van Dijck et al. · The American Journal of Human Genetics · 2019 · 57 citations · Full text

Education, Genetics, Molecular Biology +12