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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 -
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants2023 Clinical Chemistry article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, +8 more
14citations -
Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants2026 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Inés Llinares‐Burguet, Lara Sanoguera‐Miralles, Elena Bueno Martínez, Ada Esteban‐Sánchez, Daniel Romano-Medina, Lobna Ramadane‐Morchadi, +7 more
1citations -
Determining off-target effects of splice-switching antisense oligonucleotides using short read RNAseq in neuronally differentiated human induced pluripotent stem cells2025 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Elsa C. Kuijper, Linda van der Graaf, Barry A. Pepers, Mariana Guimarães Ramos, Sylvia Korhorn, Lodewijk J.A. Toonen, +5 more
5citations -
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools2025 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Mark Drost, Jordy Dekker, Federico Ferraro, Esmee Kasteleijn, Hannie Douben, Leontine van Unen, +42 more
7citations -
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Zelia Corradi, Rob W.J. Collin, Jim Swildens, Frans P.M. Cremers
10citations -
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
55citations -
SART1 uniquely localizes to spindle poles forming a SART1 cap and promotes spindle pole assembly2025 Journal of Biological Chemistry article Biochemistry, Genetics and Molecular Biology Microtubule and mitosis dynamics Open access
Daniel Moreno-Andrés, Zhenzhen Chu, Anja Scheufen, Tsumugi Funabashi, Wolfram Antonin, Oliver J. Gruß, +1 more
1citations -
Identification and Optimization of RNA-Splicing Modulators as Huntingtin Protein-Lowering Agents for the Treatment of Huntington’s Disease2023 Journal of Medicinal Chemistry article Neuroscience Genetic Neurodegenerative Diseases Open access cited by 1 patent
Longbin Liu, Karine Malagu, Alan F. Haughan, Vinod K. Khetarpal, Andrew J. Stott, William Esmieu, +41 more
8citations -
Deubiquitinating enzymes and the proteasome regulate preferential sets of ubiquitin substrates2022 Nature Communications article Biochemistry, Genetics and Molecular Biology Ubiquitin and proteasome pathways Open access
Fredrik Trulsson, Vyacheslav Akimov, Mihaela Robu, Nila K. van Overbeek, David A. Pérez Berrocal, Rashmi G. Shah, +4 more
96citations -
RBMX functional retrocopy safeguards brain development in a species-dependent context2026 Brain article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders
Pierre Tilliole, Carolin Mattausch, Peggy Tilly, Elsa Leitão, Lucile Boutaud, Daphné Lehalle, +44 more
0citations -
QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease2024 Scientific Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Willemijn van Leeuwen, Gerard J. Platenburg, Frans P.M. Cremers, Rob W.J. Collin, Jim Swildens
8citations -
Biodistribution of Radioactively Labeled Splice Modulating Antisense Oligonucleotides After Intracerebroventricular and Intrathecal Injection in Mice2024 Nucleic Acid Therapeutics article Biochemistry, Genetics and Molecular Biology RNA Interference and Gene Delivery Open access
Mick M. Welling, Ernst Suidgeest, Esmée Nieuwenhuize, Thomas de Vlaam, Tsinatkeab T. Hailu, Louise van der Weerd, +1 more
5citations -
Opportunities and challenges for antisense oligonucleotide therapies2020 Journal of Inherited Metabolic Disease article Biochemistry, Genetics and Molecular Biology RNA Interference and Gene Delivery Open access cited by 1 patent
Elsa C. Kuijper, Atze J. Bergsma, W.W.M. Pim Pijnappel, Annemieke M Aartsma-Rus
155citations -
In Vivo Phage Display for the Identification of Muscle Homing Peptides to Improve the Delivery of Phosphorodiamidate Morpholino Oligomers for Duchenne Muscular Dystrophy Therapy2025 Nucleic Acid Therapeutics article Biochemistry, Genetics and Molecular Biology RNA Interference and Gene Delivery Open access
Anne-Fleur E. Schneider, Christa L. Tanganyika-de Winter, Hailiang Mei, Silvana M.G. Jirka, Xuyu Tan, Emily G. Thompson, +4 more
0citations
23 results