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

por 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
Publicado 2018

Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene

por Martínez-Pizarro, Ainhoa, Leal, Fátima, Holm, Lise Lolle, Doktor, Thomas K., Petersen, Ulrika S.S., Bueno, María, Thöny, Beat, Pérez, Belén, Andresen, Brage S., Desviat, Lourdes R.
Publicado 2022

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

por 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
Publicado 2020

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer

por Hartung, Anne-Mette, Swensen, Jeff, Uriz, Inaki E., Lapin, Morten, Kristjansdottir, Karen, Petersen, Ulrika S. S., Bang, Jeanne Mari V., Guerra, Barbara, Andersen, Henriette Skovgaard, Dobrowolski, Steven F., Carey, John C., Yu, Ping, Vaughn, Cecily, Calhoun, Amy, Larsen, Martin R., Dyrskjøt, Lars, Stevenson, David A., Andresen, Brage S.
Publicado 2016