• A cross-sectional study on fatigue, anxiety, and symptoms of depression and their relation with medical status in adult patients with marfan syndrome. van Andel MM, …, Mulder BJM, de Waard V, Evertsz' FB. Clin Genet. 2022 Sep 4. doi: 10.1111/cge.14211.
  • Genome wide methylation patterns in Marfan syndrome. van Andel MM, Groenink M, van den Berg MP, Timmermans J, Scholte AJHA, Mulder BJM, Zwinderman AH, de Waard V. Clin Epigenetics. 2021 Dec 11;13(1):217. doi: 10.1186/s13148-021-01204-4.
  • A Novel Hypothesis: A Role for Follicle Stimulating Hormone in Abdominal Aortic Aneurysm Development in Postmenopausal Women. Tedjawirja VN, Nieuwdorp M, Yeung KK, Balm R, de Waard V. Front Endocrinol (Lausanne). 2021 Oct 13;12:726107. doi: 10.3389/fendo.2021.726107.
  • Aortic distensibility in Marfan syndrome: a potential predictor of aortic events? van Andel MM, de Waard V, Timmermans J, Scholte AJHA, van den Berg MP, Zwinderman AH, Mulder BJM, Groenink M. Open Heart. 2021 Oct;8(2):e001775. doi: 10.1136/openhrt-2021-001775.
  • Six Shades of Vascular Smooth Muscle Cells Illuminated by KLF4 (Krüppel-Like Factor 4). Yap C, Mieremet A, de Vries CJM, Micha D, de Waard V. Arterioscler Thromb Vasc Biol. 2021 Sep 2: ATVBAHA121316600. doi: 10.1161/ATVBAHA.121.316600. (Review)
  • Parallel Murine and Human Aortic Wall Genomics Reveals Metabolic Reprogramming as Key Driver of Abdominal Aortic Aneurysm Progression. Gäbel G, …, de Waard V, …., Lindeman JHN. J Am Heart Assoc. 2021 Sep 7;10(17):e020231. doi: 10.1161/JAHA.120.020231.
  • Long-term clinical outcomes of losartan in patients with Marfan syndrome: follow-up of the multicentre randomized controlled COMPARE trial.  van Andel MM, Indrakusuma R, Jalalzadeh H, …, de Waard V, Groenink M. Eur Heart J. 2020 Jun 15:ehaa377. doi: 10.1093/eurheartj/ehaa377.
  • Which Mouse Model of Abdominal Aortic Aneurysm Deserves Triple A Status? (invited edutorial) Tedjawirja VN, de Waard V. Eur J Vasc Endovasc Surg. 2019 Nov;58(5):777-778. doi: 10.1016/j.ejvs.2019.07.008.
  • Glycoproteomic Analysis of the Aortic Extracellular Matrix in Marfan Patients. Yin 殷晓科 X, Wanga S, …, de Waard V*, Mayr M. (*shared last author) Arterioscler Thromb Vasc Biol. 2019 Sep;39(9):1859-1873. doi: 10.1161/ATVBAHA.118.312175.
  • The Potential Beneficial Effects of Resveratrol on Cardiovascular Complications in Marfan Syndrome Patients; Insights from Rodent-Based Animal Studies. van Andel MM, Groenink M, Zwinderman AH, Mulder BJM, de Waard V. Int J Mol Sci. 2019 Mar 5;20(5). pii: E1122. doi: 10.3390/ijms20051122. (Review).
  • Renal cystic disease in the Fbn1C1039G/+ Marfan mouse is associated with enhanced aortic aneurysm formation. Hibender S, Wanga S, van der Made I, Vos M, Mulder BJ, Balm R, de Vries CJ, de Waard V. Cardiovasc Pathol. 2019 Jan - Feb;38:1-6. doi: 10.1016/j.carpath.2018.10.002.
  • Another notch for bicuspid aortic valve aortopathy? (invited editorial) de Waard V, Postma AV. Trends Cardiovasc Med. 2019 Feb;29(2):69-70. doi: 10.1016/j.tcm.2018.06.014.
  • Thrombospondin-4 mediates cardiovascular remodelling in angiotensin II-induced hypertension. Palao T, Medzikovic L, …, de Waard V*, Bakker EN*. (*shared last author) Cardiovasc Pathol. 2018 Jul - Aug;35:12-19. doi: 10.1016/j.carpath.2018.03.003.
  • CD40L Deficiency Protects Against Aneurysm Formation. Kusters PJH, …, de Waard V, …, Lutgens E. Arterioscler Thromb Vasc Biol. 2018 May;38(5):1076-1085. doi: 10.1161/ATVBAHA.117.310640.
  • CD1d deficiency inhibits the development of abdominal aortic aneurysms in LDL receptor deficient mice. van Puijvelde GHM, …, de Waard V, Kuiper J. PLoS One. 2018 Jan 18;13(1):e0190962. doi: 10.1371/journal.pone.0190962.
  • Marfan on the Move. (invited editorial) de Waard V.  J Am Heart Assoc. 2017 Sep 25;6(9). pii: e007465. doi: 10.1161/JAHA.117.007465
  • Aortic microcalcification is associated with elastin fragmentation in Marfan syndrome. Wanga S, Hibender S, …, de Waard V. J Pathol. 2017 Nov;243(3):294-306. doi: 10.1002/path.4949.
  • Bile-ated Cell Death Decreases Aortic Aneurysm Formation. (invited editorial) Wanga S, de Waard V. Eur J Vasc Endovasc Surg. 2017 Jan 6. pii: S1078-5884(16)30624-4. doi: 10.1016/j.ejvs.2016.11.022. 
  • The effect of losartan therapy on ventricular function in Marfan patients with haploinsufficient or dominant negative FBN1 mutations. den Hartog AW, Franken R, van den Berg MP, Zwinderman AH, Timmermans J, Scholte AJ, de Waard V, Spijkerboer AM, Pals G, Mulder BJ, Groenink M. Neth Heart J. 2016 Nov;24(11):675-681.
  • Resveratrol Inhibits Aortic Root Dilatation in the Fbn1C1039G/+ Marfan Mouse Model. Hibender S, Franken R, …, de Waard V.  Arterioscler Thromb Vasc Biol. 2016 Aug;36(8):1618-26. doi: 10.1161/ATVBAHA.116.307841.
  • Genotype impacts survival in Marfan syndrome. Franken R, Groenink M, de Waard V, Feenstra HM, Scholte AJ, van den Berg MP, Pals G, Zwinderman AH, Timmermans J, Mulder BJ. Eur Heart J. 2016 Jan 18. pii: ehv739.
  • Pregnancy and Thoracic Aortic Disease: Managing the Risks. Wanga S, Silversides C, Dore A, de Waard V, Mulder BJ. Can J Cardiol. 2016 Jan;32(1):78-85. doi: 10.1016/j.cjca.2015.09.003. Review.
  • Increased aortic tortuosity indicates a more severe aortic phenotype in adults with Marfan syndrome. Franken R, El Morabit A, de Waard V, Timmermans J, Scholte AJ, van den Berg MP, Marquering H, Planken NR, Zwinderman AH, Mulder BJ, Groenink M. Int J Cardiol. 2015 Sep 1;194:7-12. doi: 10.1016/j.ijcard.2015.05.072.
  • Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome. Franken R, …, de Waard V*, Pals G*. (* shared last author) Circ Cardiovasc Genet. 2015 Jan 22. pii: CIRCGENETICS.114.000950.
  • The risk for type B aortic dissection in Marfan Syndrome. den Hartog AW, Franken R, Zwinderman AH, Timmermans J, Scholte AJ, van den Berg MP, de Waard V, Pals G, Mulder BJ, Groenink M. J Am Coll Cardiol. 2015 Jan 27;65(3):246-54. doi: 10.1016/j.jacc.2014.10.050.
  • The revised role of TGF-β in aortic aneurysms in Marfan Syndrome. Franken R, Radonic T, den Hartog AW, Groenink M, Pals G, van Eijk M, Lutter R, Mulder BJ, Zwinderman AH, de Waard V; COMPARE study group. Neth Heart J. 2015 Feb;23(2):116-21. doi: 10.1007/s12471-014-0622-0.
  • The Ins and Outs of Small GTPase Rac1 in the Vasculature. Marinković G, Heemskerk N, van Buul JD, de Waard V. J Pharmacol Exp Ther. 2015 Aug;354(2):91-102. doi: 10.1124/jpet.115.223610.
  • Diagnosis and Genetics of Marfan Syndrome. Franken R, Heesterbeek TJ, de Waard V, Zwinderman AH, Pals G, Mulder BJ, Groenink M. Expert Opinion on Orphan Drugs (2014) 2(10):1049-1062. doi:10.1517/21678707.2014.950223  Informa Healthcare. Review
  • No beneficial effect of general and specific anti-inflammatory therapies on aortic dilatation in Marfan mice. Franken R, Hibender S, den Hartog AW, Radonic T, de Vries CJ, Zwinderman AH, Groenink M, Mulder BJ, de Waard V. PLoS One. 2014 Sep 19;9(9):e107221. doi: 10.1371/journal.pone.0107221.
  • Losartan reduces aortic dilatation rate in adults with Marfan Syndrome: a randomized controlled trial. Groenink M, …, de Waard V, …, Mulder BJ. Eur Heart J. 2013 Dec;34(45):3491-500. doi: 10.1093/eurheartj/eht334.
  • Clinical features differ substantially between Caucasian and Asian populations of Marfan Syndrome. Franken R, den Hartog AW, van de Riet L, Timmermans J, Scholte AJ, van den Berg MP, de Waard V, Zwinderman AH, Groenink M, Yip JW, Mulder BJ. Circ J. 2013;77(11):2793-8.
  • Immunosuppressive drug azathioprine reduces aneurysm progression through inhibition of Rac1 and c-Jun-terminal-N-kinase in endothelial cells. Marinkovic G, Hibender S, …, de Waard V. Arterioscler Thromb Vasc Biol. 2013 Oct;33(10):2380-8. doi: 10.1161/ATVBAHA.113.301394.
  • Circulating transforming growth factor-β as a prognostic biomarker in Marfan Syndrome. Franken R, den Hartog AW, de Waard V, …, Groenink M, Mulder BJ. Int J Cardiol. 2013 Oct 3;168(3):2441-6. doi: 10.1016/j.ijcard.2013.03.033.
  • Inflammation aggravates disease severity in Marfan Syndrome patients. Radonic T, … de Waard V, …, Mulder BJ, Zwinderman AH. PLoS One. 2012;7(3):e32963. doi: 10.1371/journal.pone.0032963.
  • Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician. Lauffer P, Kamp GA, Menke LA, Wit JM, Oostdijk W; on behalf of the Dutch Working Group on Triage and Diagnosis of Growth Disorders in Children. Horm Res Paediatr. 2019;91(5):293-310. doi: 10.1159/000500810. Epub 2019 Jul 12.PMID: 31302655 
  • Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient. Marsili L, Overwater E, Hanna N, Baujat G, Baars MJH, Boileau C, Bonneau D, Brehin AC, Capri Y, Cheung HY, Dulfer E, Gerard M, Gouya L, Hilhorst-Hofstee Y, Houweling AC, Isidor B, Le Gloan L, Menke LA, Odent S, Morice-Picard F, Vanlerberghe C, Voorhoeve E, van Tintelen JP, Maugeri A, Arnaud P.Clin Genet. 2020 May;97(5):723-730. doi: 10.1111/cge.13700. Epub 2020 Jan 16.PMID: 31898322
  • Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A.Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12.PMID: 29907982
  • Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort. van den Bersselaar LM, Verhagen JMA, Bekkers JA, Kempers M, Houweling AC, Baars M, Overwater E, Hilhorst-Hofstee Y, Barge-Schaapveld DQCM, Rompen E, Krapels IPC, Dulfer E, Wessels MW, Loeys BL, Verhagen HJM, Maugeri A, Roos-Hesselink JW, Brüggenwirth HT, van de Laar IMBH. Genet Med. 2022 Sep 1:S1098-3600(22)00846-2. doi: 10.1016/j.gim.2022.07.009. Online ahead of print.
  • Spontaneous coronary artery dissection as presenting feature of vascular Ehlers-Danlos syndrome. J. Bos, E. Overwater, Houweling A.C. Cardiogenetics, 2021
  • Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1. Overwater E, Van Rossum K, Baars MJH, Maugeri A, Houweling AC. Neth Heart J. 2019 Jun 12
  • Mortality Risk Associated With Truncating Founder Mutations in Titin. Among authors: Houweling AC. Circ Genom Precis Med. 2019 May;12(5)
  • NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. Overwater E, Floor K, van Beek D, …,Houweling AC, Maugeri A. Eur J Med Genet. 2017 Sep;60(9)
  • Iris Flocculi and Type B Aortic Dissection. Overwater E, Houweling AC. Ophthalmology. 2017 Nov;124(11):1711.
  • Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant. Overwater E,..,Tintelen JP, Houweling AC. Mol Genet Genomic Med. 2018 Nov 28
  • Clinical and genetic aspects of bicuspid aortic valve: a proposed model for family screening based on a review of literature. Overwater, Baars.., Houweling AC. Cardiogenetics Journal, 2015


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