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Page 1
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.
COllaborative Neonatal Network for the first European CPAM Trial (CONNECT): a study protocol for a randomised controlled trial.
Kersten CM, Hermelijn SM, Dossche LWJ, Muthialu N, Losty PD, Schurink M, Rietman AB, Poley MJ, van Rosmalen J, Zanen-van den Adel TPL, Ciet P, von der Thüsen J, Brosens E, Ijsselstijn H, Tiddens HAWM, Wijnen RMH, Schnater JM. Kersten CM, et al. Among authors: brosens e. BMJ Open. 2023 Mar 17;13(3):e071989. doi: 10.1136/bmjopen-2023-071989. BMJ Open. 2023. PMID: 36931672 Free PMC article.
Genetics of enteric neuropathies.
Brosens E, Burns AJ, Brooks AS, Matera I, Borrego S, Ceccherini I, Tam PK, García-Barceló MM, Thapar N, Benninga MA, Hofstra RM, Alves MM. Brosens E, et al. Dev Biol. 2016 Sep 15;417(2):198-208. doi: 10.1016/j.ydbio.2016.07.008. Epub 2016 Jul 15. Dev Biol. 2016. PMID: 27426273 Free article. Review.
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.
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.
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.
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.
Verhagen JMA, Veldman JH, van der Zwaag PA, von der Thüsen JH, Brosens E, Christiaans I, Dooijes D, Helderman-van den Enden ATJM, Lekanne Deprez RH, Michels M, van Mil AM, Oldenburg RA, van der Smagt JJ, van den Wijngaard A, Wessels MW, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, van de Laar IMBH. Verhagen JMA, et al. Among authors: brosens e. Eur J Hum Genet. 2018 Nov;26(11):1603-1610. doi: 10.1038/s41431-018-0208-1. Epub 2018 Jul 9. Eur J Hum Genet. 2018. PMID: 29988065 Free PMC article.
86 results