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Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Groeneweg JA, Ummels A, Mulder M, Bikker H, van der Smagt JJ, van Mil AM, Homfray T, Post JG, Elvan A, van der Heijden JF, Houweling AC, Jongbloed JD, Wilde AA, van Tintelen JP, Hauer RN, Dooijes D. Groeneweg JA, et al. Among authors: ummels a. Heart Rhythm. 2014 Nov;11(11):2010-7. doi: 10.1016/j.hrthm.2014.07.041. Epub 2014 Jul 31. Heart Rhythm. 2014. PMID: 25087486
Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation.
van der Smagt JJ, van der Zwaag PA, van Tintelen JP, Cox MG, Wilde AA, van Langen IM, Ummels A, Hennekam FA, Dooijes D, Gerbens F, Bikker H, Hauer RN, Doevendans PA. van der Smagt JJ, et al. Among authors: ummels a. Cardiology. 2012;123(3):181-9. doi: 10.1159/000342717. Epub 2012 Nov 7. Cardiology. 2012. PMID: 23147395
Mortality Risk Associated With Truncating Founder Mutations in Titin.
Jansen M, Baas AF, van Spaendonck-Zwarts KY, Ummels AS, van den Wijngaard A, Jongbloed JDH, van Slegtenhorst MA, Lekanne Deprez RH, Wessels MW, Michels M, Houweling AC, Hoorntje ET, Helderman-van den Enden PJTM, Barge-Schaapveld DQCM, Peter van Tintelen J, van den Berg MP, Wilde AAM, Ploos van Amstel HK, Hennekam EAM, Asselbergs FW, Sijbrands EJG, Dooijes D. Jansen M, et al. Among authors: ummels as. Circ Genom Precis Med. 2019 May;12(5):e002436. doi: 10.1161/CIRCGEN.118.002436. Circ Genom Precis Med. 2019. PMID: 31112426
Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.
Hochstenbach R, Nowakowska B, Volleth M, Ummels A, Kutkowska-Kaźmierczak A, Obersztyn E, Ziemkiewicz K, Gerloff C, Schanze D, Zenker M, Muschke P, Schanze I, Poot M, Liehr T. Hochstenbach R, et al. Among authors: ummels a. Mol Syndromol. 2016 Feb;6(5):210-21. doi: 10.1159/000441408. Epub 2015 Oct 31. Mol Syndromol. 2016. PMID: 26997941 Free PMC article.
Outbreak of COVID-19 on an industrial ship.
Fanoy E, Ummels AE, Schokkenbroek V, van Dijk B, Wiegmans S, Veenstra T, van der Eijk AA, Sikkema RS, de Raad A. Fanoy E, et al. Among authors: ummels ae. Int Marit Health. 2021;72(2):87-92. doi: 10.5603/IMH.2021.0016. Int Marit Health. 2021. PMID: 34212347 Free article.