DeepCLIP: predicting the effect of mutations on protein–RNA binding with deep learning
Grønning, Alexander Gulliver Bjørnholt, Doktor, Thomas Koed, Larsen, Simon Jonas, Petersen, Ulrika Simone Spangsberg, Holm, Lise Lolle, Bruun, Gitte Hoffmann, Hansen, Michael Birkerod, Hartung, Anne-Mette, Baumbach, Jan, Andresen, Brage Storstein
Published in Nucleic acids research (27.07.2020)
Published in Nucleic acids research (27.07.2020)
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Journal Article
Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing
Varzari, Alexander, Deyneko, Igor V., Bruun, Gitte Hoffmann, Dembic, Maja, Hofmann, Winfried, Cebotari, Victor M., Ginda, Sergei S., Andresen, Brage S., Illig, Thomas
Published in Frontiers in genetics (20.10.2022)
Published in Frontiers in genetics (20.10.2022)
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Journal Article
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
Palhais, Bruno, Præstegaard, Veronica S, Sabaratnam, Rugivan, Doktor, Thomas Koed, Lutz, Seraina, Burda, Patricie, Suormala, Terttu, Baumgartner, Matthias, Fowler, Brian, Bruun, Gitte Hoffmann, Andersen, Henriette Skovgaard, Kožich, Viktor, Andresen, Brage Storstein
Published in Nucleic acids research (19.05.2015)
Published in Nucleic acids research (19.05.2015)
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Journal Article
Adeno-associated virus-delivered polycistronic microRNA-clusters for knockdown of vascular endothelial growth factor in vivo
Pihlmann, Maria, Askou, Anne Louise, Aagaard, Lars, Bruun, Gitte Hoffmann, Svalgaard, Jesper Dyrendom, Holm-Nielsen, Marie Hebsgaard, Dagnæs-Hansen, Frederik, Bek, Toke, Mikkelsen, Jacob Giehm, Jensen, Thomas Gryesten, Corydon, Thomas Juhl
Published in The journal of gene medicine (01.05.2012)
Published in The journal of gene medicine (01.05.2012)
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Journal Article
RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns
Doktor, Thomas Koed, Hua, Yimin, Andersen, Henriette Skovgaard, Brøner, Sabrina, Liu, Ying Hsiu, Wieckowska, Anna, Dembic, Maja, Bruun, Gitte Hoffmann, Krainer, Adrian R, Andresen, Brage Storstein
Published in Nucleic acids research (09.01.2017)
Published in Nucleic acids research (09.01.2017)
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Journal Article
Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans
Heintz, Caroline, Doktor, Thomas K., Lanjuin, Anne, Escoubas, Caroline C., Zhang, Yue, Weir, Heather J., Dutta, Sneha, Silva-García, Carlos Giovanni, Bruun, Gitte H., Morantte, Ianessa, Hoxhaj, Gerta, Manning, Brendan D., Andresen, Brage S., Mair, William B.
Published in Nature (London) (05.01.2017)
Published in Nature (London) (05.01.2017)
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Journal Article
A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1
Grønskov, Karen, Jespersgaard, Cathrine, Bruun, Gitte Hoffmann, Harris, Pernille, Brøndum-Nielsen, Karen, Andresen, Brage S., Rosenberg, Thomas
Published in Scientific reports (24.01.2019)
Published in Scientific reports (24.01.2019)
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Journal Article
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Mosegaard, Signe, Bruun, Gitte Hoffmann, Flyvbjerg, Karen Freund, Bliksrud, Yngve Thomas, Gregersen, Niels, Dembic, Maja, Annexstad, Ellen, Tangeraas, Trine, Olsen, Rikke Katrine Jentoft, Andresen, Brage S.
Published in Molecular genetics and metabolism (01.12.2017)
Published in Molecular genetics and metabolism (01.12.2017)
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Journal Article
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
Palhais, Bruno, Dembic, Maja, Sabaratnam, Rugivan, Nielsen, Kira S., Doktor, Thomas Koed, Bruun, Gitte Hoffmann, Andresen, Brage Storstein
Published in Molecular genetics and metabolism (01.11.2016)
Published in Molecular genetics and metabolism (01.11.2016)
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Journal Article
SPLICE SWITCHING OLIGONUCLEOTIDES TARGETING PSEUDOEXONS
PETERSEN, Ulrika Simone Spangsberg, HOLM, Lise, Lolle, ANDRESEN, Brage, Storstein, BRUUN, Gitte, Hoffmann, DOKTOR, Thomas, Koed
Year of Publication 06.12.2023
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Year of Publication 06.12.2023
Patent
SPLICE SWITCHING OLIGONUCLEOTIDES TARGETING PSEUDOEXONS
PETERSEN, ULRIKA SIMONE SPANGSBERG, BRUUN, GITTE HOFFMANN, ANDRESEN, BRAGE STORSTEIN, DOKTOR, THOMAS KOED, HOLM, LISE LOLLE
Year of Publication 04.08.2022
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Year of Publication 04.08.2022
Patent
DeepCLIP: Predicting the effect of mutations on protein-RNA binding with Deep Learning
Alexander Gulliver Bjoernholt Groenning, Doktor, Thomas Koed, Simon Jonas Larsen, Ulrika Simone Spangsberg Petersen, Lise Lolle Holm, Gitte Hoffmann Bruun, Hansen, Michael Birkerod, Hartung, Anne-Mette, Baumbach, Jan, Andresen, Brage Storstein
Published in bioRxiv (20.10.2019)
Published in bioRxiv (20.10.2019)
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Paper