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Genome Biology|October 22, 2011
Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancerWigard P Kloosterman, Marlous Hoogstraat, Oscar Paling, et al.Nature Communications|November 8, 2017
Mapping and phasing of structural variation in patient genomes using nanopore sequencingMircea Cretu Stancu, Markus J van Roosmalen, Ivo Renkens, et al.Genome Medicine|May 19, 2021
Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patientsJose Espejo Valle-Inclan, Christina Stangl, Anouk C de Jong, et al.Nature Genetics|May 19, 2015
Genome-wide patterns and properties of de novo mutations in humansLaurent C Francioli, Paz P Polak, Amnon Koren, et al.Cell Genomics|February 13, 2023
A multi-platform reference for somatic structural variation detectionJose Espejo Valle-Inclan, Nicolle J M Besselink, Ewart de Bruijn, et al.Journal of Medical Genetics|August 15, 2012
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual faceMagdalena Harakalova, Marie-Jose van den Boogaard, Richard Sinke, et al.Cell Reports|July 21, 2012
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanismsWigard P Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J van Roosmalen, et al.Genome Research|November 14, 2013
Genomic and transcriptomic plasticity in treatment-naive ovarian cancerMarlous Hoogstraat, Mirjam S de Pagter, Geert A Cirkel, et al.Cell Reports|December 16, 2014
Genomic and functional overlap between somatic and germline chromosomal rearrangementsSebastiaan van Heesch, Marieke Simonis, Markus J van Roosmalen, et al.Nature Communications|October 7, 2016
A high-quality human reference panel reveals the complexity and distribution of genomic structural variantsJayne Y Hehir-Kwa, Tobias Marschall, Wigard P Kloosterman, et al.Pageof 3