Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology

por Stemerdink, Merel, Broekman, Sanne, Peters, Theo, Kremer, Hannie, de Vrieze, Erik, van Wijk, Erwin
Publicado 2023

SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation

por Salz, Renee, Saraiva-Agostinho, Nuno, Vorsteveld, Emil, van der Made, Caspar I., Kersten, Simone, Stemerdink, Merel, Allen, Jamie, Volders, Pieter-Jan, Hunt, Sarah E., Hoischen, Alexander, ’t Hoen, Peter A.C.
Publicado 2023