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The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
Hoorntje ET, van Spaendonck-Zwarts KY, Te Rijdt WP, Boven L, Vink A, van der Smagt JJ, Asselbergs FW, van Wijngaarden J, Hennekam EA, Pinto YM, Lekanne Deprez RH, Barge-Schaapveld DQCM, Bootsma M, Regieli J, Hoedemaekers YM, Jongbloed JDH, van den Berg MP, van Tintelen JP. Hoorntje ET, et al. Among authors: bootsma m. Eur J Heart Fail. 2018 Apr;20(4):803-806. doi: 10.1002/ejhf.1030. Epub 2017 Oct 23. Eur J Heart Fail. 2018. PMID: 29057560 Free PMC article. No abstract available.
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.
Hoorntje ET, Bollen IA, Barge-Schaapveld DQ, van Tienen FH, Te Meerman GJ, Jansweijer JA, van Essen AJ, Volders PG, Constantinescu AA, van den Akker PC, van Spaendonck-Zwarts KY, Oldenburg RA, Marcelis CL, van der Smagt JJ, Hennekam EA, Vink A, Bootsma M, Aten E, Wilde AA, van den Wijngaard A, Broers JL, Jongbloed JD, van der Velden J, van den Berg MP, van Tintelen JP. Hoorntje ET, et al. Among authors: bootsma m. Circ Cardiovasc Genet. 2017 Aug;10(4):e001631. doi: 10.1161/CIRCGENETICS.116.001631. Circ Cardiovasc Genet. 2017. PMID: 28790152
A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.
van der Linde IHM, Hiemstra YL, Bökenkamp R, van Mil AM, Breuning MH, Ruivenkamp C, Ten Broeke SW, Veldkamp RF, van Waning JI, van Slegtenhorst MA, van Spaendonck-Zwarts KY, Lekanne Deprez RH, Herkert JC, Boven L, van der Zwaag PA, Jongbloed JDH, Bootsma M, Barge-Schaapveld DQCM. van der Linde IHM, et al. Among authors: bootsma m. Neth Heart J. 2017 Dec;25(12):675-681. doi: 10.1007/s12471-017-1037-5. Epub 2017 Sep 1. Neth Heart J. 2017. PMID: 28864942 Free PMC article.
Incidence and predictors of implantable cardioverter-defibrillator therapy and its complications in idiopathic ventricular fibrillation patients.
Blom LJ, Visser M, Christiaans I, Scholten MF, Bootsma M, van den Berg MP, Yap SC, van der Heijden JF, Doevendans PA, Loh P, Postema PG, Barge-Schaapsveld DQ, Hofman N, Volders PGA, Wilde AA, Hassink RJ. Blom LJ, et al. Among authors: bootsma m. Europace. 2019 Oct 1;21(10):1519-1526. doi: 10.1093/europace/euz151. Europace. 2019. PMID: 31114860
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
Copier JS, Bootsma M, Ng CA, Wilde AAM, Bertels RA, Bikker H, Christiaans I, van der Crabben SN, Hol JA, Koopmann TT, Knijnenburg J, Lommerse AAJ, van der Smagt JJ, Bezzina CR, Vandenberg JI, Verkerk AO, Barge-Schaapveld DQCM, Lodder EM. Copier JS, et al. Among authors: bootsma m. Hum Mol Genet. 2023 Mar 20;32(7):1072-1082. doi: 10.1093/hmg/ddac261. Hum Mol Genet. 2023. PMID: 36269083 Free PMC article.
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET, Burns C, Marsili L, Corden B, Parikh VN, Te Meerman GJ, Gray B, Adiyaman A, Bagnall RD, Barge-Schaapveld DQCM, van den Berg MP, Bootsma M, Bosman LP, Correnti G, Duflou J, Eppinga RN, Fatkin D, Fietz M, Haan E, Jongbloed JDH, Hauer AD, Lam L, van Lint FHM, Lota A, Marcelis C, McCarthy HJ, van Mil AM, Oldenburg RA, Pachter N, Planken RN, Reuter C, Semsarian C, van der Smagt JJ, Thompson T, Vohra J, Volders PGA, van Waning JI, Whiffin N, van den Wijngaard A, Amin AS, Wilde AAM, van Woerden G, Yeates L, Zentner D, Ashley EA, Wheeler MT, Ware JS, van Tintelen JP, Ingles J. Hoorntje ET, et al. Among authors: bootsma m. Circ Genom Precis Med. 2023 Feb;16(1):e003672. doi: 10.1161/CIRCGEN.121.003672. Epub 2022 Dec 29. Circ Genom Precis Med. 2023. PMID: 36580316 Free PMC article. Review.
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
Bos TA, Piers SRD, Wessels MW, Houweling AC, Bökenkamp R, Bootsma M, Bosman LP, Evertz R, Hellebrekers DMEI, Hoedemaekers YM, Knijnenburg J, Lekanne Deprez R, van Mil AM, Te Riele ASJM, van Slegtenhorst MA, Wilde AAM, Yap SC, Dooijes D, Koopmann TT, van Tintelen JP, Barge-Schaapveld DQCM; European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart. Bos TA, et al. Among authors: bootsma m. Neth Heart J. 2023 Aug;31(7-8):315-323. doi: 10.1007/s12471-023-01791-2. Epub 2023 Jul 28. Neth Heart J. 2023. PMID: 37505369 Free PMC article.
The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview.
Verheul LM, van der Ree MH, Groeneveld SA, Mulder BA, Christiaans I, Kapel GFL, Alings M, Bootsma M, Barge-Schaapveld DQCM, Balt JC, Yap SC, Krapels IPC, Ter Bekke RMA, Volders PGA, van der Crabben SN, Postema PG, Wilde AAM, Dooijes D, Baas AF, Hassink RJ. Verheul LM, et al. Among authors: bootsma m. Europace. 2023 Nov 2;25(11):euad336. doi: 10.1093/europace/euad336. Europace. 2023. PMID: 37967257 Free PMC article.
188 results