Dmitrijs Rots

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

Plasma neurofilament light chain as a potential biomarker in Charcot‐Marie‐Tooth disease

Elīna Millere, Dmitrijs Rots, Joel Simrén et al. · European Journal of Neurology · 2020 · 53 citations

Medicine, Neurology, Neuroscience +15

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips et al. · Genetics in Medicine · 2022 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genetic landscape of preterm birth due to cervical insufficiency: Comprehensive gene analysis and patient next-generation sequencing data interpretation

Ludmila Voložonoka, Dmitrijs Rots, Inga Kempa et al. · PLoS ONE · 2020 · 32 citations · Full text

Life Sciences, Maternal Health, Molecular Genetics +13

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen et al. · Genetics in Medicine · 2022 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17