Feasibility of predicting allele specific expression from DNA sequencing using machine learning by Zhenhua Zhang, Freerk van Dijk, Niek de Klein, Mariëlle E van Gijn, Lude H Franke, Richard J Sinke, Morris A Swertz, K Joeri van der Velde

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Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa by Jeroen Bremer, Elisabeth H. van der Heijden, Daryll S. Eichhorn, Rowdy Meijer, Henny H. Lemmink, Hans Scheffer, Richard J. Sinke, Marcel F. Jonkman, Anna M.G. Pasmooij, Peter C. Van den Akker

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Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead by Abigail Veldman, Mensiena B. G. Kiewiet, Margaretha Rebecca Heiner-Fokkema, Marcel R. Nelen, Richard J. Sinke, Birgit Sikkema-Raddatz, Els Voorhoeve, Dineke Westra, Martijn E. T. Dollé, Peter C. J. I. Schielen, Francjan J. van Spronsen

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Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp? by Miaozhen Huang, Esther A. R. Nibbeling, Tjerk J. Lagrand, Ivana A. Souza, Justus L. Groen, Maria A. Gandini, Fang-Xiong Zhang, Johannes H. T. M. Koelman, Noam Adir, Richard J. Sinke, Gerald W. Zamponi, Marina A. J. Tijssen, Dineke S. Verbeek

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No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy. by Edgar T Hoorntje, Anna Posafalvi, Petros Syrris, K Joeri van der Velde, Marieke C Bolling, Alexandros Protonotarios, Ludolf G Boven, Nuria Amat-Codina, Judith A Groeneweg, Arthur A Wilde, Nara Sobreira, Hugh Calkins, Richard N W Hauer, Marcel F Jonkman, William J McKenna, Perry M Elliott, Richard J Sinke, Maarten P van den Berg, Stephen P Chelko, Cynthia A James, J Peter van Tintelen, Daniel P Judge, Jan D H Jongbloed

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