R.W.W. Brouwer
R.W.W. Brouwer
ErasmusMC
Geverifieerd e-mailadres voor erasmusmc.nl
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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
6872014
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndromeUSP18 deficiency in Pseudo-TORCH
MEC Meuwissen, R Schot, S Buta, G Oudesluijs, S Tinschert, SD Speer, ...
The Journal of experimental medicine 213 (7), 1163-1174, 2016
1552016
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
1542013
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
1512014
Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model
MM Alves, Y Sribudiani, RWW Brouwer, J Amiel, G Antiņolo, S Borrego, ...
Developmental biology 382 (1), 320-329, 2013
1182013
The relative value of operon predictions
RWW Brouwer, OP Kuipers, SAFT van Hijum
Briefings in bioinformatics 9 (5), 367-375, 2008
1172008
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), 1-17, 2014
722014
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
712017
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), 1-18, 2012
692012
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
672018
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
612018
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), 1-11, 2015
602015
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
582012
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), 1-13, 2017
562017
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
562015
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
512016
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
482015
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
472017
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
432017
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
372020
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