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SNPitty: An Intuitive Web Application for Interactive B-Allele Frequency and Copy Number Visualization of Next-Generation Sequencing Data.
van Riet J, Krol NMG, Atmodimedjo PN, Brosens E, van IJcken WFJ, Jansen MPHM, Martens JWM, Looijenga LH, Jenster G, Dubbink HJ, Dinjens WNM, van de Werken HJG. van Riet J, et al. Among authors: brosens e. J Mol Diagn. 2018 Mar;20(2):166-176. doi: 10.1016/j.jmoldx.2017.11.011. Epub 2018 Jan 2. J Mol Diagn. 2018. PMID: 29305224 Free article.
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.
Almomani R, Verhagen JM, Herkert JC, Brosens E, van Spaendonck-Zwarts KY, Asimaki A, van der Zwaag PA, Frohn-Mulder IM, Bertoli-Avella AM, Boven LG, van Slegtenhorst MA, van der Smagt JJ, van IJcken WF, Timmer B, van Stuijvenberg M, Verdijk RM, Saffitz JE, du Plessis FA, Michels M, Hofstra RM, Sinke RJ, van Tintelen JP, Wessels MW, Jongbloed JD, van de Laar IM. Almomani R, et al. Among authors: brosens e. J Am Coll Cardiol. 2016 Feb 9;67(5):515-25. doi: 10.1016/j.jacc.2015.10.093. J Am Coll Cardiol. 2016. PMID: 26846950 Free article.
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
Halim D, Wilson MP, Oliver D, Brosens E, Verheij JB, Han Y, Nanda V, Lyu Q, Doukas M, Stoop H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks AS, Tibboel D, Xu S, Jin ZG, Djuwantono T, Yan W, Alves MM, Hofstra RM, Miano JM. Halim D, et al. Among authors: brosens e. Proc Natl Acad Sci U S A. 2017 Mar 28;114(13):E2739-E2747. doi: 10.1073/pnas.1620507114. Epub 2017 Mar 14. Proc Natl Acad Sci U S A. 2017. PMID: 28292896 Free PMC article.
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM. Halim D, et al. Among authors: brosens e. Am J Hum Genet. 2017 Jul 6;101(1):123-129. doi: 10.1016/j.ajhg.2017.05.011. Epub 2017 Jun 8. Am J Hum Genet. 2017. PMID: 28602422 Free PMC article.
Nimbus: a design-driven analyses suite for amplicon-based NGS data.
Brouwer RWW, van den Hout MCGN, Kockx CEM, Brosens E, Eussen B, de Klein A, Sleutels F, van IJcken WFJ. Brouwer RWW, et al. Among authors: brosens e. Bioinformatics. 2018 Aug 15;34(16):2732-2739. doi: 10.1093/bioinformatics/bty145. Bioinformatics. 2018. PMID: 29538618 Free PMC article.
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
Sribudiani Y, Chauhan RK, Alves MM, Petrova L, Brosens E, Harrison C, Wabbersen T, de Graaf BM, Rügenbrink T, Burzynski G, Brouwer RWW, van IJcken WFJ, Maas SM, de Klein A, Osinga J, Eggen BJL, Burns AJ, Brooks AS, Shepherd IT, Hofstra RMW. Sribudiani Y, et al. Among authors: brosens e. Gastroenterology. 2018 Jul;155(1):118-129.e6. doi: 10.1053/j.gastro.2018.03.034. Epub 2018 Mar 28. Gastroenterology. 2018. PMID: 29601828 Free article.
Infantile hypertrophic pyloric stenosis in patients with esophageal atresia.
Ten Kate CA, Brouwer RWW, van Bever Y, Martens VK, Brands T, van Beelen NWG, Brooks AS, Huigh D, van der Helm RM, Eussen BHFMM, van IJcken WFJ, IJsselstijn H, Tibboel D, Wijnen RMH, de Klein A, Hofstra RMW, Brosens E. Ten Kate CA, et al. Among authors: brosens e. Birth Defects Res. 2020 May 15;112(9):670-687. doi: 10.1002/bdr2.1683. Epub 2020 Apr 16. Birth Defects Res. 2020. PMID: 32298054
Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas.
Brosens E, Felix JF, Boerema-de Munck A, de Jong EM, Lodder EM, Swagemakers S, Buscop-van Kempen M, de Krijger RR, Wijnen RMH, van IJcken WFJ, van der Spek P, de Klein A, Tibboel D, Rottier RJ. Brosens E, et al. PLoS One. 2020 Nov 17;15(11):e0242167. doi: 10.1371/journal.pone.0242167. eCollection 2020. PLoS One. 2020. PMID: 33201890 Free PMC article.
86 results