Publications by authors named "R Timmermans"

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Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies.
Dalila Capasso, Roberta Zeuli, Gavin Arno, Michael Kwint, Raoul Timmermans

HGG Adv· July 2025

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Exploring the effect of intracellular loop 1 genetic variants in human ABCG2 on transport activity and protein abundance.
Noora Sjöstedt, Ritchie G M Timmermans, Marika Vieraankivi, Laura Suominen, Kati-Sisko Vellonen

Drug Metab Pharmacokinet· June 2025

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Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.
Merel Stemerdink, Tabea Riepe, Nick Zomer, Renee Salz, Michael Kwint, Raoul Timmermans

Genome Res· April 2025

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HiFi long-read genomes for difficult-to-detect, clinically relevant variants.
Wolfram Höps, Marjan M Weiss, Ronny Derks, Jordi Corominas Galbany, Amber den Ouden, Raoul Timmermans

Am J Hum Genet· February 2025

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Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in .
Irene Vázquez-Domínguez, Mert Öktem, Florian A Winkelaar, Thai Hoang Nguyen, Anita D M Hoogendoorn, Raoul Timmermans

Mol Ther Nucleic Acids· December 2024

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