Neoplasia, Ageing, and Genetic Instability due to Defective Caretaker Genes by Holger Hoehn, Kornelia Neveling, Daniela Endt, Ralph Melcher, Detlev Schindler

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Chromosome-level genome assembly of the sacoglossan sea slug Elysia timida (Risso, 1818) by Lisa Männer, Tilman Schell, Julia Spies, Carles Galià-Camps, Damian Baranski, Alexander Ben Hamadou, Charlotte Gerheim, Kornelia Neveling, Eric J. N. Helfrich, Carola Greve

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AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9 by Erik de Vrieze, Jorge Cañas Martín, Jolien Peijnenborg, Aniek Martens, Jaap Oostrik, Simone van den Heuvel, Kornelia Neveling, Ronald Pennings, Hannie Kremer, Erwin van Wijk

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Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects by Lonneke Haer-Wigman, Amber den Ouden, Ronny Derks, Maria M. van Genderen, Dorien Lugtenberg, Joke Verheij, Raymon Vijzelaar, Helger G. Yntema, Lisenka E. L. M. Vissers, Kornelia Neveling

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Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease by Abderrahim Marouane, Abderrahim Marouane, Kornelia Neveling, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers, Lisenka E. L. M. Vissers

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A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements by Jakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, Marlene Ek, Christopher M. Grochowski, Ming Yin Lun, Alex Hastie, Susanne Rudolph, Sigrid Fuchs, Kornelia Neveling, Maja Hempel, Alexander Hoischen, Maria Pettersson, Claudia M.B. Carvalho, Jesper Eisfeldt, Anna Lindstrand

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Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures. by Danilo Licastro, Margherita Mutarelli, Ivana Peluso, Kornelia Neveling, Nienke Wieskamp, Rossella Rispoli, Diego Vozzi, Emmanouil Athanasakis, Angela D'Eustacchio, Mariateresa Pizzo, Francesca D'Amico, Carmela Ziviello, Francesca Simonelli, Antonella Fabretto, Hans Scheffer, Paolo Gasparini, Sandro Banfi, Vincenzo Nigro

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A complex structural variant near SOX3 causes X-linked split-hand/foot malformation by Elke de Boer, Carlo Marcelis, Kornelia Neveling, Ellen van Beusekom, Alexander Hoischen, Willemijn M. Klein, Nicole de Leeuw, Tuomo Mantere, Uirá S. Melo, Jeroen van Reeuwijk, Dominique Smeets, Malte Spielmann, Tjitske Kleefstra, Hans van Bokhoven, Lisenka E.L.M. Vissers

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Long-read technologies identify a hidden inverted duplication in a family with choroideremia by Zeinab Fadaie, Kornelia Neveling, Tuomo Mantere, Ronny Derks, Lonneke Haer-Wigman, Amber den Ouden, Michael Kwint, Luke O’Gorman, Dyon Valkenburg, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Marcel Nelen, Frans P.M. Cremers, Alexander Hoischen, Susanne Roosing

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Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA by Lonneke Haer-Wigman, Amber den Ouden, Maria M. van Genderen, Hester Y. Kroes, Joke Verheij, Dzenita Smailhodzic, Attje S. Hoekstra, Raymon Vijzelaar, Jan Blom, Ronny Derks, Menno Tjon-Pon-Fong, Helger G. Yntema, Marcel R. Nelen, Lisenka E.L.M. Vissers, Dorien Lugtenberg, Kornelia Neveling

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Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration. by Maheswara R Duvvari, Johannes P H van de Ven, Maartje J Geerlings, Nicole T M Saksens, Bjorn Bakker, Arjen Henkes, Kornelia Neveling, Marisol del Rosario, Dineke Westra, Lambertus P W J van den Heuvel, Tina Schick, Sascha Fauser, Camiel J F Boon, Carel B Hoyng, Eiko K de Jong, Anneke I den Hollander

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Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant by Janine Reurink, Erik de Vrieze, Catherina H. Z. Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimarães Ramos, Christian Gilissen, Galuh D. N. Astuti, Jordi Corominas Galbany, Janneke J. C. van Lith-Verhoeven, Charlotte W. Ockeloen, Lonneke Haer-Wigman, Carel B. Hoyng, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk

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