Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital by Miriam E. Imafidon, Birgit Sikkema-Raddatz, Kristin M. Abbott, Martine T. Meems-Veldhuis, Morris A. Swertz, Morris A. Swertz, K. Joeri van der Velde, K. Joeri van der Velde, Gea Beunders, Dennis K. Bos, Nine V. A. M. Knoers, Wilhelmina S. Kerstjens-Frederikse, Cleo C. van Diemen

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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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Ten quick tips for building FAIR workflows by Casper de Visser, Lennart F. Johansson, Purva Kulkarni, Hailiang Mei, Pieter Neerincx, K. Joeri van der Velde, Péter Horvatovich, Alain J. van Gool, Morris A. Swertz, Peter A. C. ‘t Hoen, Anna Niehues

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Ten quick tips for building FAIR workflows. by Casper de Visser, Lennart F Johansson, Purva Kulkarni, Hailiang Mei, Pieter Neerincx, K Joeri van der Velde, Péter Horvatovich, Alain J van Gool, Morris A Swertz, Peter A C 't Hoen, Anna Niehues

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A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature by K. Joeri van derVelde, Sander van denHoek, Freerk vanDijk, Dennis Hendriksen, Cleo C. vanDiemen, Lennart F. Johansson, Kristin M. Abbott, Patrick Deelen, Birgit Sikkema‐Raddatz, Morris A. Swertz

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reGenotyper: Detecting mislabeled samples in genetic data. by Konrad Zych, Basten L Snoek, Mark Elvin, Miriam Rodriguez, K Joeri Van der Velde, Danny Arends, Harm-Jan Westra, Morris A Swertz, Gino Poulin, Jan E Kammenga, Rainer Breitling, Ritsert C Jansen, Yang Li

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Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics by Mohamed Z. Alimohamed, Mohamed Z. Alimohamed, Mohamed Z. Alimohamed, Mohamed Z. Alimohamed, Helga Westers, Yvonne J. Vos, K. Joeri Van der Velde, Rolf H. Sijmons, Paul A. Van der Zwaag, Birgit Sikkema-Raddatz, Jan D. H. Jongbloed

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Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa by Franciscus C. Vermeer, Jeroen Bremer, Robert J. Sietsma, Aileen Sandilands, Robyn P. Hickerson, Marieke C. Bolling, Anna M.G. Pasmooij, Henny H. Lemmink, Morris A. Swertz, Nine V.A.M. Knoers, K. Joeri van der Velde, Peter C. van den Akker

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Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries by Bruna dos Santos Vieira, César H. Bernabé, Shuxin Zhang, Haitham Abaza, Nirupama Benis, Alberto Cámara, Ronald Cornet, Clémence M. A. Le Cornec, Peter A. C. ’t Hoen, Franz Schaefer, K. Joeri van der Velde, Morris A. Swertz, Mark D. Wilkinson, Annika Jacobsen, Marco Roos

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A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR by Philip van Damme, Pablo Alarcón Moreno, César H. Bernabé, Alberto Cámara Ballesteros, Clémence M. A. Le Cornec, Bruna Dos Santos Vieira, K. Joeri van der Velde, Shuxin Zhang, Claudio Carta, Ronald Cornet, Peter A.C. ’t Hoen, Annika Jacobsen, Morris A. Swertz, Marco Roos, Nirupama Benis

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Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data by Rajaram Kaliyaperumal, Mark D. Wilkinson, Pablo Alarcón Moreno, Nirupama Benis, Ronald Cornet, Bruna dos Santos Vieira, Michel Dumontier, César Henrique Bernabé, Annika Jacobsen, Clémence M. A. Le Cornec, Mario Prieto Godoy, Núria Queralt-Rosinach, Leo J. Schultze Kool, Morris A. Swertz, Philip van Damme, K. Joeri van der Velde, Nawel Lalout, Shuxin Zhang, Marco Roos

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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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FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research by K. Joeri van der Velde, Gurnoor Singh, Rajaram Kaliyaperumal, XiaoFeng Liao, Sander de Ridder, Susanne Rebers, Hindrik H. D. Kerstens, Fernanda de Andrade, Jeroen van Reeuwijk, Fini E. De Gruyter, Saskia Hiltemann, Maarten Ligtvoet, Marjan M. Weiss, Hanneke W. M. van Deutekom, Anne M. L. Jansen, Andrew P. Stubbs, Lisenka E. L. M. Vissers, Jeroen F. J. Laros, Esther van Enckevort, Daphne Stemkens, Peter A. C. ‘t Hoen, Jeroen A. M. Beliën, Mariëlle E. van Gijn, Morris A. Swertz

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Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis by Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha M. Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld-Huijssoon, Jelkje J. Boer-Bergsma, Pytrik Folkertsma, Tessa Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D. H. Jongbloed, Conny M. A. van Ravenswaaij-Arts, Richard Sinke, Birgit Sikkema-Raddatz, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Lude Franke

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