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A spatially resolved brain region- and cell type-specific isoform atlas of the postnatal mouse brain2021 Nature Communications article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Anoushka Joglekar, Andrey D. Prjibelski, Ahmed Essam Mahfouz, Paul G. Collier, Susan Lin, Anna Katharina Schlusche, +24 more
247citations -
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases2023 Nature article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access cited by 1 patent
Martin A. Mensah, Henri Niskanen, Alexandre Papadopoulos Magalhães, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, +34 more
168citations -
Splicing factors control triple-negative breast cancer cell mitosis through SUN2 interaction and sororin intron retention2021 Journal of Experimental & Clinical Cancer Research article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Esmee Koedoot, Eline van Steijn, Marjolein Vermeer, Román González‐Prieto, Alfred C.O. Vertegaal, John W.M. Martens, +2 more
73citations -
Targeted pseudouridylation: An approach for suppressing nonsense mutations in disease genes2023 Molecular Cell article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Hironori Adachi, Yi Pan, Xueyang He, Jonathan L. Chen, Gerard J. Platenburg, Pedro Morais, +2 more
71citations -
Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides2022 Nucleic Acid Therapeutics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Annemieke M Aartsma-Rus, Alejandro Garanto, Willeke van Roon‐Mom, Erin M. McConnell, Victoria Suslovitch, Winston X. Yan, +2 more
56citations -
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information2020 Nature Communications article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Sebastian Guelfi, Karishma D’Sa, Juan Antonio Botía, Jana Vandrovcová, Regina Hertfelder Reynolds, David Zhang, +94 more
39citations -
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations
Annemieke M Aartsma-Rus, Willeke van Roon‐Mom, Marlen C. Lauffer, Christine L. E. Siezen, Britt Duijndam, Tineke Coenen-de Roo, +3 more
34citations -
An antisense noncoding RNA enhances translation via localized structural rearrangements of its cognate mRNA2021 The Plant Cell article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Rodrigo Siqueira Reis, Jules Deforges, Romy Schmidt, Jos H. M. Schippers, Yves Poirier
33citations -
C/D box snoRNA SNORD113-6/AF357425 plays a dual role in integrin signalling and arterial fibroblast function via pre-mRNA processing and 2′O-ribose methylation2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Eva van Ingen, Daphne A. L. van den Homberg, M. Leontien van der Bent, Hailiang Mei, Nikolina Papac-Miličević, Veerle Kremer, +4 more
27citations -
Depletion of the RNA-binding protein PURA triggers changes in posttranscriptional gene regulation and loss of P-bodies2022 Nucleic Acids Research article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Lena Molitor, Melina Klostermann, Sabrina Bacher, Juliane Merl‐Pham, Nadine Spranger, Sandra Burczyk, +15 more
25citations -
Single-Cell RNA Sequencing Reveals mRNA Splice Isoform Switching during Kidney Development2020 Journal of the American Society of Nephrology article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Yishay Wineberg, Tali Hana Bar-Lev, Anna Futorian, Nissim Ben-Haim, Leah Armon, Debby Ickowicz, +9 more
24citations -
The RNA-binding profile of the splicing factor SRSF6 in immortalized human pancreatic β-cells2020 Life Science Alliance article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Maria Inês Alvelos, Mirko Brüggemann, F.X. Reymond Sutandy, Máikel L. Colli, Anke Busch, Miguel Lopes, +5 more
22citations -
A comparison of metabolic labeling and statistical methods to infer genome-wide dynamics of RNA turnover2021 Briefings in Bioinformatics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Etienne Boileau, Janine Altmüller, Isabel S. Naarmann‐de Vries, Christoph Dieterich
21citations -
The Effect of SF3B1 Mutation on the DNA Damage Response and Nonsense-Mediated mRNA Decay in Cancer2021 Frontiers in Oncology article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Alexander C. Leeksma, Ingrid A. M. Derks, M. Haidar Kasem, Emine Kılıç, Annelies de Klein, Martine Johanna Jager, +11 more
21citations -
Cell-surface RNA forms ternary complex with RNA-binding proteins and heparan sulfate to recruit immune receptors2025 Molecular Cell article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Zeshi Li, Bhagyashree S. Joshi, Hongbo Yin, Ruud H. M. Wijdeven, Dick W. Zijlmans, Irene Santos‐Barriopedro, +11 more
19citations -
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa2026 Nature Genetics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, +94 more
16citations -
Alternative Polyadenylation Utilization Results in Ribosome Assembly and mRNA Translation Deficiencies in a Model for Muscle Aging2022 The Journals of Gerontology Series A article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Hailiang Mei, J. H. VAN BOOM, Salma el Abdellaoui, Kotb Abdelmohsen, Rachel Munk, Jennifer L. Martindale, +5 more
15citations -
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, +92 more
15citations -
PABPN1 loss-of-function causes APA-shift in oculopharyngeal muscular dystrophy2024 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Milad Shademan, Hailiang Mei, Baziel G.M. van Engelen, Yavuz Ariyürek, Susan L. Kloet, Vered Raz
13citations -
Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation2023 EMBO Molecular Medicine article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Arjan F. Theil, Alex Pines, Tuğba Kalaycı, José María Heredia‐Genestar, Anja Raams, Marion H. Rietveld, +14 more
12citations -
P23 Acts as Functional RBP in the Macrophage Inflammation Response2021 Frontiers in Molecular Biosciences article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Sebastian de Vries, Vladimı́r Beneš, Isabel S. Naarmann‐de Vries, Cornelia Rücklé, Kathi Zarnack, Gernot Marx, +2 more
11citations