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Human Mutation|November 27, 2021
Pseudoexon activation in disease by non-splice site deep intronic sequence variation - wild type pseudoexons constitute high-risk sites in the human genomeUlrika S S Petersen, Thomas K Doktor, Brage S Andresen
Molecular Genetics and Metabolism|May 12, 2010
The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencerSteven F Dobrowolski, Henriette S Andersen, Thomas K Doktor, et al.
Cellular and Molecular Life Sciences : CMLS|June 6, 2022
Essential role of CK2α for the interaction and stability of replication fork factors during DNA synthesis and activation of the S-phase checkpointBarbara Guerra, Thomas K Doktor, Sabrina B Frederiksen, et al.
Human Mutation|December 19, 2021
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencersLise L Holm, Thomas K Doktor, Michael B Hansen, et al.
Nucleic Acids Research|February 7, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicingLise L Holm, Thomas K Doktor, Katharina K Flugt, et al.
BMC Biology|July 7, 2016
Global identification of hnRNP A1 binding sites for SSO-based splicing modulationGitte H Bruun, Thomas K Doktor, Jonas Borch-Jensen, et al.
Scientific Reports|October 12, 2019
Down-regulation of CK2α correlates with decreased expression levels of DNA replication minichromosome maintenance protein complex (MCM) genesSusanne Schaefer, Thomas K Doktor, Sabrina B Frederiksen, et al.
NAR Molecular Medicine|November 21, 2025
Oligonucleotides targeting the 3' splice site downstream of a microexon as an innovative therapy for autismAinhoa Martinez-Pizarro, Sara Picó, Mar Alvárez, et al.
Molecular Genetics and Metabolism|November 18, 2018
Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan diseaseMaja Dembic, Henriette S Andersen, Jean Bastin, et al.
Human Mutation|December 10, 2020
Identification of SRSF10 as a regulator of SMN2 ISS-N1Sabrina B Frederiksen, Lise L Holm, Martin R Larsen, et al.
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