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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 -
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 -
SRSF7 controls RNA splicing programs driving triple-negative breast cancer metastasis2026 Journal of Experimental & Clinical Cancer Research article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Nasi Liu, Jurjun J S van der Velde, Esmee Koedoot, Marcel Smid, Vanja de Weerd, John W.M. Martens, +2 more
0citations -
Pharmacological CLK inhibition disrupts SR protein function and RNA splicing blocking cell growth and migration in TNBC2025 Breast Cancer Research article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Nasi Liu, Jurjun J S van der Velde, Sherien Ramdjielal, Esmee Koedoot, Nila K. van Overbeek, Daisy Batenburg, +3 more
5citations -
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 -
Genetic regulation of RNA splicing in human pancreatic islets2022 Genome biology article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Goutham Atla, Sílvia Bonàs‐Guarch, Mirabai Cuenca-Ardura, Anthony Beucher, Daniel J. M. Crouch, Javier García-Hurtado, +26 more
32citations -
A MOLECULAR MAP OF LONG NON-CODING RNA EXPRESSION, ISOFORM SWITCHING AND ALTERNATIVE SPLICING IN OSTEOARTHRITIS2022 Osteoarthritis and Cartilage article Medicine Osteoarthritis Treatment and Mechanisms Open access
Georgia Katsoula, Julia Steinberg, Margo Tuerlings, Rodrigo Coutinho de Almeida, Lorraine Southam, Diane Swift, +3 more
1citations -
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium2026 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer
Joanna Domènech-Vivó, Hélène Tubeuf, Romy L.S. Mesman, Aurélie Drouet, Melanie Girardi, María Concepción Alonso‐Cerezo, +27 more
0citations -
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 -
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 -
Decoding exon inclusion in the human brain reveals more divergent splicing mechanisms in neurons than glia2026 Genome biology article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Lieke Michielsen, Justine Hsu, Anoushka Joglekar, Natan Belchikov, Marcel J. T. Reinders, Hagen Tilgner, +1 more
0citations -
Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia2021 Nature Communications article Biochemistry, Genetics and Molecular Biology RNA and protein synthesis mechanisms Open access
Samoil Sekulovski, Pascal Devant, Silvia Panizza, Tasos Gogakos, Anda Pitiriciu, Katharina Heitmeier, +8 more
39citations -
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM42026 Movement Disorders article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, +19 more
1citations -
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
33citations -
Epitranscriptomic alterations induced by environmental toxins: implications for RNA modifications and disease2025 Genes and Environment article Biochemistry, Genetics and Molecular Biology RNA modifications and cancer Open access
Esther Ugo Alum, Regina Idu Ejemot-Nwadiaro, Mariam Basajja, Daniel Ejim Uti, Okechukwu Paul-Chima Ugwu, Patrick Maduabuchi Aja
10citations -
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA22020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Romy L.S. Mesman, Fabienne M.G.R. Calléja, Miguel de la Hoya, Peter Devilee, Christi J. van Asperen, Harry Vrieling, +1 more
40citations -
Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy2023 Frontiers in Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Shala Ghaderi Berntsson, Hans Matsson, Anna Kristoffersson, Valter Niemelä, Hermine A. van Duyvenvoorde, Cindy Richel-van Assenbergh, +4 more
1citations -
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A. Wai, Heather Ferrao, Herma van der Linde, Evita Karelioti, +11 more
5citations