De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

by Shirley Lo-A-Njoe, Lars T. van der Veken, Clementien Vermont, Louise Rafael-Croes, Vincent Keizer, Ron Hochstenbach, Nine Knoers, Mieke M. van Haelst
Published 2016-01-01

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

by Sjors Middelkamp, Judith M. Vlaar, Jacques Giltay, Jerome Korzelius, Nicolle Besselink, Sander Boymans, Roel Janssen, Lisanne de la Fonteijne, Ellen van Binsbergen, Markus J. van Roosmalen, Ron Hochstenbach, Daniela Giachino, Michael E. Talkowski, Wigard P. Kloosterman, Edwin Cuppen
Published 2019-12-01

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

by Wigard P. Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J. van Roosmalen, Ellen van Binsbergen, Ivo Renkens, Karen Duran, Lucia Ballarati, Sarah Vergult, Daniela Giardino, Kerstin Hansson, Claudia A.L. Ruivenkamp, Myrthe Jager, Arie van Haeringen, Elly F. Ippel, Thomas Haaf, Eberhard Passarge, Ron Hochstenbach, Björn Menten, Lidia Larizza, Victor Guryev, Martin Poot, Edwin Cuppen
Published 2012-06-01

Gene-network analysis identifies susceptibility genes related to glycobiology in autism.

by Bert van der Zwaag, Lude Franke, Martin Poot, Ron Hochstenbach, Henk A Spierenburg, Jacob A S Vorstman, Emma van Daalen, Maretha V de Jonge, Nienke E Verbeek, Eva H Brilstra, Ruben van 't Slot, Roel A Ophoff, Michael A van Es, Hylke M Blauw, Jan H Veldink, Jacobine E Buizer-Voskamp, Frits A Beemer, Leonard H van den Berg, Cisca Wijmenga, Hans Kristian Ploos van Amstel, Herman van Engeland, J Peter H Burbach, Wouter G Staal
Published 2009-01-01

Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

by Sebastiaan van Heesch, Marieke Simonis, Markus J. van Roosmalen, Vamsee Pillalamarri, Harrison Brand, Ewart W. Kuijk, Kim L. de Luca, Nico Lansu, A. Koen Braat, Androniki Menelaou, Wensi Hao, Jeroen Korving, Simone Snijder, Lars T. van der Veken, Ron Hochstenbach, Alida C. Knegt, Karen Duran, Ivo Renkens, Najla Alekozai, Myrthe Jager, Sarah Vergult, Björn Menten, Ewart de Bruijn, Sander Boymans, Elly Ippel, Ellen van Binsbergen, Michael E. Talkowski, Klaske Lichtenbelt, Edwin Cuppen, Wigard P. Kloosterman
Published 2014-12-01