G. H. Bruun

发表

DeepCLIP: predicting the effect of mutations on protein–RNA binding with deep learning

Alexander G. B. Grønning, J. Baumbach, T. K. Doktor, 2019, bioRxiv.

Global identification of hnRNP A1 binding sites for SSO-based splicing modulation

A. Krainer, A. Masuda, K. Ohno, 2016, BMC Biology.

Syddansk Universitet Global identification of hnRNP A 1 binding sites for SSO-based splicing modulation

A. Krainer, A. Masuda, K. Ohno, 2016 .

OATP1B1 Polymorphism as a Determinant of Erythromycin Disposition

G. H. Bruun, A. Gibson, A. Sparreboom, 2012, Clinical pharmacology and therapeutics.

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

Y. Hua, A. Krainer, T. K. Doktor, 2016, Nucleic acids research.

Syddansk Universitet RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U 12-dependent introns

Y. Hua, T. K. Doktor, G. H. Bruun, 2016 .

Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing

T. Illig, G. H. Bruun, B. Andresen, 2022, Frontiers in Genetics.

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

G. H. Bruun, B. Andresen, N. Gregersen, 2017, Molecular genetics and metabolism.

Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition.

G. Rosner, M. Relling, Cheng Cheng, 2012, Genome research.

Splicing Factor 1 Modulates Dietary Restriction and TORC1 Pathway Longevity in C. elegans

Gerta Hoxhaj, Sneha Dutta, Ianessa Morantte, 2016, Nature.

The ETFDH c.158A>G Variation Disrupts the Balanced Interplay of ESE‐ and ESS‐Binding Proteins thereby Causing Missplicing and Multiple Acyl‐CoA Dehydrogenation Deficiency

T. K. Doktor, G. H. Bruun, B. Andresen, 2014, Human mutation.

Influence of Polymorphic OATP1B-Type Carriers on the Disposition of Docetaxel

G. H. Bruun, S. Baker, A. Gibson, 2012, Clinical Cancer Research.

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells

M. Baumgartner, T. Suormala, T. K. Doktor, 2015, Nucleic acids research.

Syddansk Universitet Splice-shifting oligonucleotide ( SSO ) mediated blocking of an exonic splicing enhancer ( ESE ) created by the prevalent c . 903 + 469 T > C MTRR mutation corrects splicing and restores enzyme activity in patient cells

M. Baumgartner, T. Suormala, G. H. Bruun, 2015 .

A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation.

T. K. Doktor, G. H. Bruun, B. Andresen, 2013, Molecular genetics and metabolism.

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 silencer.

T. K. Doktor, G. H. Bruun, B. Andresen, 2016, Molecular genetics and metabolism.

Corrigendum: Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans

Ianessa Morantte, T. K. Doktor, G. H. Bruun, 2017, Nature.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

Predictive Biomarkers and Personalized Medicine In fl uence of Polymorphic OATP 1 B-Type Carriers on the Disposition of Docetaxel

G. H. Bruun, S. Baker, A. Gibson, 2012 .

Down-regulation of CK2α correlates with decreased expression levels of DNA replication minichromosome maintenance protein complex (MCM) genes

T. K. Doktor, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

Adeno‐associated virus‐delivered polycistronic microRNA‐clusters for knockdown of vascular endothelial growth factor in vivo

T. Jensen, T. Bek, J. Mikkelsen, 2012, The journal of gene medicine.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells

Alexander G. B. Grønning, T. K. Doktor, G. H. Bruun, 2018, Nucleic acids research.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells

Alexander G. B. Grønning, T. K. Doktor, G. H. Bruun, 2018, Nucleic acids research.

Global identification of hnRNP A1 binding sites for SSO-based splicing modulation

A. Krainer, A. Masuda, K. Ohno, 2016, BMC Biology.

OATP1B1 Polymorphism as a Determinant of Erythromycin Disposition

G. H. Bruun, A. Gibson, A. Sparreboom, 2012, Clinical pharmacology and therapeutics.

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

G. H. Bruun, B. Andresen, N. Gregersen, 2017, Molecular genetics and metabolism.

predicting the effect of mutations on protein-RNA binding with deep learning

T. K. Doktor, S. Larsen, L. L. Holm, 2020 .