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Molecular Genetics and Metabolism|July 2, 2013
A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidationGitte Hoffmann Bruun, Thomas Koed Doktor, Brage Storstein Andresen
BMC Microbiology|April 26, 2017
DFI-seq identification of environment-specific gene expression in uropathogenic Escherichia coliMichelle Madelung, Tina Kronborg, Thomas Koed Doktor, et al.
Human Mutation|February 2, 2010
The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuriaKaterina Homolova, Petra Zavadakova, Thomas Koed Doktor, et al.
British Journal of Cancer|December 24, 2025
Pan-cancer analysis of pyrimidine metabolism reveals signaling pathways connections with chemoresistance roleVignesh Ramesh, Mert Demirdizen, Luisa Pinna, et al.
Scientific Reports|February 23, 2012
CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decayAkio Masuda, Henriette Skovgaard Andersen, Thomas Koed Doktor, et al.
Molecular Genetics and Metabolism|September 6, 2016
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencerBruno Palhais, Maja Dembic, Rugivan Sabaratnam, et al.
Human Mutation|December 2, 2010
SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice siteThomas Koed Doktor, Lisbeth Dahl Schroeder, Anne Vested, et al.
Plos One|June 4, 2014
Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2Thomas Koed Doktor, Lisbeth Dahl Schrøder, Henriette Skovgaard Andersen, et al.
International Journal of Molecular Sciences|January 10, 2026
Improvement of Diagnostics in NSCLC Patients with MET Exon 14 Mutations Using Complementary DNA/RNA-NGS and Identification of Two Novel Exonic Splicing MutationsEdyta Maria Urbanska, Thomas Koed Doktor, Linea Cecilie Melchior, et al.
Molecular Therapy. Nucleic Acids|March 31, 2022
VEGFA-targeting miR-agshRNAs combine efficacy with specificity and safety for retinal gene therapySidsel Alsing, Thomas Koed Doktor, Anne Louise Askou, et al.
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