Cohesin and CTCF differentially affect chromatin architecture and gene expression in human cells J Zuin, JR Dixon, MIJA Van Der Reijden, Z Ye, P Kolovos, RWW Brouwer, ... Proceedings of the National Academy of Sciences 111 (3), 996-1001, 2014 | 894 | 2014 |
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome MEC Meuwissen, R Schot, S Buta, G Oudesluijs, S Tinschert, SD Speer, ... Journal of Experimental Medicine 213 (7), 1163-1174, 2016 | 280 | 2016 |
Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma AE Koopmans, RM Verdijk, RWW Brouwer, TPP Van Den Bosch, ... Modern pathology 27 (10), 1321-1330, 2014 | 245 | 2014 |
Multiplexed chromosome conformation capture sequencing for rapid genome-scale high-resolution detection of long-range chromatin interactions R Stadhouders, P Kolovos, R Brouwer, J Zuin, A Van Den Heuvel, ... Nature protocols 8 (3), 509-524, 2013 | 178 | 2013 |
Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model MM Alves, Y Sribudiani, RWW Brouwer, J Amiel, G Antiñolo, S Borrego, ... Developmental biology 382 (1), 320-329, 2013 | 152 | 2013 |
The relative value of operon predictions RWW Brouwer, OP Kuipers, SAFT Van Hijum Briefings in bioinformatics 9 (5), 367-375, 2008 | 131 | 2008 |
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study M Quadri, W Mandemakers, MM Grochowska, R Masius, H Geut, ... The Lancet Neurology 17 (7), 597-608, 2018 | 126 | 2018 |
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice D Halim, MP Wilson, D Oliver, E Brosens, JBGM Verheij, Y Han, V Nanda, ... Proceedings of the National Academy of Sciences 114 (13), E2739-E2747, 2017 | 126 | 2017 |
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study D Van Opstal, MC Van Maarle, K Lichtenbelt, MM Weiss, ... Genetics in Medicine 20 (5), 480-485, 2018 | 122 | 2018 |
In vitro capture and characterization of embryonic rosette-stage pluripotency between naive and primed states A Neagu, E van Genderen, I Escudero, L Verwegen, D Kurek, J Lehmann, ... Nature cell biology 22 (5), 534-545, 2020 | 105 | 2020 |
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations M Nellist, RWW Brouwer, CEM Kockx, M van Veghel-Plandsoen, ... BMC medical genetics 16, 1-11, 2015 | 96 | 2015 |
Targeted Chromatin Capture (T2C): a novel high resolution high throughput method to detect genomic interactions and regulatory elements P Kolovos, HJG van de Werken, N Kepper, J Zuin, RWW Brouwer, ... Epigenetics & chromatin 7, 1-17, 2014 | 93 | 2014 |
Loss-of-function variants in MYLK cause recessive megacystis microcolon intestinal hypoperistalsis syndrome D Halim, E Brosens, F Muller, MF Wangler, AL Beaudet, JR Lupski, ... The American Journal of Human Genetics 101 (1), 123-129, 2017 | 84 | 2017 |
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes H Gui, D Schriemer, WW Cheng, RK Chauhan, G Antiňolo, C Berrios, ... Genome biology 18, 1-13, 2017 | 83 | 2017 |
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome D Halim, RMW Hofstra, L Signorile, RM Verdijk, CS van der Werf, ... Human Molecular Genetics 25 (3), 571-583, 2016 | 74 | 2016 |
Genome-wide DNA methylation profiling of non-small cell lung carcinomas RH Carvalho, V Haberle, J Hou, T van Gent, S Thongjuea, W van IJcken, ... Epigenetics & chromatin 5, 1-18, 2012 | 74 | 2012 |
NARWHAL, a primary analysis pipeline for NGS data RWW Brouwer, M van den Hout, FG Grosveld, WFJ van IJcken Bioinformatics 28 (2), 284-285, 2012 | 67 | 2012 |
Sp1/Sp3 transcription factors regulate hallmarks of megakaryocyte maturation and platelet formation and function M Meinders, DI Kulu, HJG van de Werken, M Hoogenboezem, H Janssen, ... Blood, The Journal of the American Society of Hematology 125 (12), 1957-1967, 2015 | 65 | 2015 |
PLD3 variants in population studies SJ Van der Lee, H Holstege, TH Wong, J Jakobsdottir, JC Bis, V Chouraki, ... Nature 520 (7545), E2-E3, 2015 | 60 | 2015 |
Exome-sequencing in a large population-based study reveals a rare Asn396Ser variant in the LIPG gene associated with depressive symptoms N Amin, O Jovanova, HHH Adams, A Dehghan, M Kavousi, MW Vernooij, ... Molecular psychiatry 22 (4), 537-543, 2017 | 57 | 2017 |