Genomic DNA Pooling Strategy for Next-Generation Sequencing-Based Rare Variant Discovery in Abdominal Aortic Aneurysm Regions of Interest—Challenges and Limitations

by Harakalova, Magdalena, Nijman, Isaäc J., Medic, Jelena, Mokry, Michal, Renkens, Ivo, Blankensteijn, Jan D., Kloosterman, Wigard, Baas, Annette F., Cuppen, Edwin
Published 2011

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

by Kloosterman, Wigard P, Hoogstraat, Marlous, Paling, Oscar, Tavakoli-Yaraki, Masoumeh, Renkens, Ivo, Vermaat, Joost S, van Roosmalen, Markus J, van Lieshout, Stef, Nijman, Isaac J, Roessingh, Wijnand, van 't Slot, Ruben, van de Belt, José, Guryev, Victor, Koudijs, Marco, Voest, Emile, Cuppen, Edwin
Published 2011

Genome-wide patterns and properties of de novo mutations in humans

by Francioli, Laurent C., Polak, Paz P., Koren, Amnon, Menelaou, Androniki, Chun, Sung, Renkens, Ivo, van Duijn, Cornelia M., Swertz, Morris, Wijmenga, Cisca, van Ommen, Gertjan, Slagboom, P. Eline, Boomsma, Dorret I., Ye, Kai, Guryev, Victor, Arndt, Peter F., Kloosterman, Wigard P., de Bakker, Paul I. W., Sunyaev, Shamil R.
Published 2015

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

by Hehir-Kwa, Jayne Y., Marschall, Tobias, Kloosterman, Wigard P., Francioli, Laurent C., Baaijens, Jasmijn A., Dijkstra, Louis J., Abdellaoui, Abdel, Koval, Vyacheslav, Thung, Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley P., Deelen, Patrick, de Ligt, Joep, Lameijer, Eric-Wubbo, van Dijk, Freerk, Hormozdiari, Fereydoun, Uitterlinden, André G., van Duijn, Cornelia M., Eichler, Evan E., de Bakker, Paul I. W., Swertz, Morris A., Wijmenga, Cisca, van Ommen, Gert-Jan B., Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Ye, Kai, Guryev, Victor
Published 2016

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

by van der Crabben, Saskia N., Hennus, Marije P., McGregor, Grant A., Ritter, Deborah I., Nagamani, Sandesh C.S., Wells, Owen S., Harakalova, Magdalena, Chinn, Ivan K., Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M., Terheggen-Lagro, Suzanne W., van Lieshout, Stef, van Roosmalen, Markus J., Renkens, Ivo, Duran, Karen, Nijman, Isaac J., Kloosterman, Wigard P., Hennekam, Eric, Orange, Jordan S., van Hasselt, Peter M., Wheeler, David A., Palecek, Jan J., Lehmann, Alan R., Oliver, Antony W., Pearl, Laurence H., Plon, Sharon E., Murray, Johanne M., van Haaften, Gijs
Published 2016