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

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Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing by Varzari, Alexander, Deyneko, Igor V., Bruun, Gitte Hoffmann, Dembic, Maja, Hofmann, Winfried, Cebotari, Victor M., Ginda, Sergei S., Andresen, Brage S., Illig, Thomas

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A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation by Bruun, Gitte Hoffmann, Doktor, Thomas Koed, Andresen, Brage Storstein

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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 enzy... by 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

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

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

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

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A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1 by Grønskov, Karen, Jespersgaard, Cathrine, Bruun, Gitte Hoffmann, Harris, Pernille, Brøndum-Nielsen, Karen, Andresen, Brage S., Rosenberg, Thomas

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

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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 by Palhais, Bruno, Dembic, Maja, Sabaratnam, Rugivan, Nielsen, Kira S., Doktor, Thomas Koed, Bruun, Gitte Hoffmann, Andresen, Brage Storstein

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