Karit Reinson

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 144 citations · Full text

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 · 83 citations

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 · 67 citations · Full text

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 · 56 citations · Full text

Genome Instability, Genetics, Aberrant Function +7

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

Sanna Puusepp, Karit Reinson, Sander Pajusalu et al. · Molecular Genetics and Metabolism Reports · 2018 · 46 citations · Full text