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KBTBD13 is a novel cardiomyopathy gene.
Hum Mutat. 2022 Dec;43(12):1860-1865. doi: 10.1002/humu.24499. Epub 2022 Nov 20.
Hum Mutat. 2022.
PMID: 36335629
Free PMC article.
Founder mutations in the Netherlands: SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide.
Postema PG, Van den Berg M, Van Tintelen JP, Van den Heuvel F, Grundeken M, Hofman N, Van der Roest WP, Nannenberg EA, Krapels IP, Bezzina CR, Wilde A.
Postema PG, et al. Among authors: van der roest wp.
Neth Heart J. 2009 Nov;17(11):422-8. doi: 10.1007/BF03086296.
Neth Heart J. 2009.
PMID: 19949711
Free PMC article.
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Haplotype sharing test maps genes for familial cardiomyopathies.
van der Zwaag PA, van Tintelen JP, Gerbens F, Jongbloed JD, Boven LG, van der Smagt JJ, van der Roest WP, van Langen IM, Bikker H, Hauer RN, van den Berg MP, Hofstra RM, te Meerman GJ.
van der Zwaag PA, et al. Among authors: van der roest wp.
Clin Genet. 2011 May;79(5):459-67. doi: 10.1111/j.1399-0004.2010.01472.x.
Clin Genet. 2011.
PMID: 20573160
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Family letters are an effective way to inform relatives about inherited cardiac disease.
van der Roest WP, Pennings JM, Bakker M, van den Berg MP, van Tintelen JP.
van der Roest WP, et al.
Am J Med Genet A. 2009 Mar;149A(3):357-63. doi: 10.1002/ajmg.a.32672.
Am J Med Genet A. 2009.
PMID: 19213028
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Long-Term Follow-Up Study on the Uptake of Genetic Counseling and Predictive DNA Testing in Inherited Cardiac Conditions.
van den Heuvel LM, van Teijlingen MO, van der Roest W, van Langen IM, Smets EMA, van Tintelen JP, Christiaans I.
van den Heuvel LM, et al. Among authors: van der roest w.
Circ Genom Precis Med. 2020 Oct;13(5):524-530. doi: 10.1161/CIRCGEN.119.002803. Epub 2020 Aug 14.
Circ Genom Precis Med. 2020.
PMID: 33079600
Free PMC article.
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