Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor by Fiona Poyer, Raúl Jimenez Heredia, Raúl Jimenez Heredia, Raúl Jimenez Heredia, Wolfgang Novak, Petra Zeitlhofer, Petra Zeitlhofer, Karin Nebral, Karin Nebral, Michael N. Dworzak, Michael N. Dworzak, Oskar A. Haas, Oskar A. Haas, Oskar A. Haas, Kaan Boztug, Kaan Boztug, Kaan Boztug, Kaan Boztug, Leo Kager, Leo Kager

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PITFALLS IN THE DIAGNOSTICS OF SAA/RCC: CAN WHOLE EXOME SEQUENCING LEAD US THE WAY? by Wolfgang Novak, Alexandra Frohne, Susanne Karlhuber, Raúl Jimenez-Heredia, Leo Kager, Michael Dworzak, Kaan Boztug

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Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient by Negar Moradian, Samaneh Zoghi, Elham Rayzan, Simin Seyedpour, Raul Jimenez Heredia, Kaan Boztug, Nima Rezaei

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A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypes by Leo Kager, Raúl Jimenez‐Heredia, Petra Zeitlhofer, Wolfgang Novak, Sebastian K. Eder, Anna Segarra‐Roca, Alexandra Frohne, Karin Nebral, Matthias Haimel, René Geyeregger, Katharina Roetzer‐Londgin, Oskar A. Haas, Kaan Boztug

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Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation by Marini Thian, Birgit Hoeger, Anton Kamnev, Fiona Poyer, Sevgi Köstel Bal, Michael Caldera, Raúl Jiménez-Heredia, Jakob Huemer, Winfried F. Pickl, Miriam Groß, Stephan Ehl, Carrie L. Lucas, Jörg Menche, Caroline Hutter, Andishe Attarbaschi, Loïc Dupré, Kaan Boztug

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Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease by Marlene Panzer, André Viveiros, Benedikt Schaefer, Nadja Baumgartner, Klaus Seppi, Atbin Djamshidian, Theodor Todorov, William J. H. Griffiths, Eckart Schott, Markus Schuelke, Dennis Eurich, Albert Friedrich Stättermayer, Adrian Bomford, Pierre Foskett, Julia Vodopiutz, Rudolf Stauber, Elke Pertler, Bernhard Morell, Herbert Tilg, Thomas Müller, Stefan Kiechl, Raul Jimenez‐Heredia, Karl Heinz Weiss, Si Houn Hahn, Andreas Janecke, Peter Ferenci, Heinz Zoller

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TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome by Elizabeth A. Werren, Geneva R. LaForce, Anshika Srivastava, Delia R. Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L. Regan, Christian D. Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E. J. Prijoles, Raymond J. Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T. Gordon, Kaan Boztug, Katta M. Girisha, Anju Shukla, Stephanie L. Bielas, Ashleigh E. Schaffer

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