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
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells
Bruun, Gitte H, Bang, Jeanne M V, Christensen, Lise L, Brøner, Sabrina, Petersen, Ulrika S S, Guerra, Barbara, Grønning, Alexander G B, Doktor, Thomas K, Andresen, Brage S
Published in Nucleic acids research (06.09.2018)
Published in Nucleic acids research (06.09.2018)
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Journal Article
Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2
Doktor, Thomas Koed, Schrøder, Lisbeth Dahl, Andersen, Henriette Skovgaard, Brøner, Sabrina, Kitewska, Anna, Sørensen, Charlotte Brandt, Andresen, Brage Storstein
Published in PloS one (03.06.2014)
Published in PloS one (03.06.2014)
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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
Olsen, Rikke K. J., Brøner, Sabrina, Sabaratnam, Rugivan, Doktor, Thomas K., Andersen, Henriette S., Bruun, Gitte H., Gahrn, Birthe, Stenbroen, Vibeke, Olpin, Simon E., Dobbie, Angus, Gregersen, Niels, Andresen, Brage S.
Published in Human mutation (01.01.2014)
Published in Human mutation (01.01.2014)
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Journal Article
Identification of SRSF10 as a regulator of SMN2 ISS‐N1
Frederiksen, Sabrina B., Holm, Lise L., Larsen, Martin R., Doktor, Thomas K., Andersen, Henriette S., Hastings, Michelle L., Hua, Yimin, Krainer, Adrian R., Andresen, Brage S.
Published in Human mutation (01.03.2021)
Published in Human mutation (01.03.2021)
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