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A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q.
van de Meerakker JB, van Engelen K, Mathijssen IB, Lekanne dit Deprez RH, Lam J, Wilde AA, Baars MJ, Mannens MM, Mulder BJ, Moorman AF, Postma AV. van de Meerakker JB, et al. Among authors: van engelen k. Eur J Hum Genet. 2011 Jul;19(7):820-6. doi: 10.1038/ejhg.2011.33. Epub 2011 Mar 9. Eur J Hum Genet. 2011. PMID: 21386876 Free PMC article.
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.
Vermeer AM, van Engelen K, Postma AV, Baars MJ, Christiaans I, De Haij S, Klaassen S, Mulder BJ, Keavney B. Vermeer AM, et al. Among authors: van engelen k. Am J Med Genet C Semin Med Genet. 2013 Aug;163C(3):178-84. doi: 10.1002/ajmg.c.31365. Epub 2013 Jun 21. Am J Med Genet C Semin Med Genet. 2013. PMID: 23794396 Review.
Mutations in the sarcomere gene MYH7 in Ebstein anomaly.
Postma AV, van Engelen K, van de Meerakker J, Rahman T, Probst S, Baars MJ, Bauer U, Pickardt T, Sperling SR, Berger F, Moorman AF, Mulder BJ, Thierfelder L, Keavney B, Goodship J, Klaassen S. Postma AV, et al. Among authors: van de meerakker j, van engelen k. Circ Cardiovasc Genet. 2011 Feb;4(1):43-50. doi: 10.1161/CIRCGENETICS.110.957985. Epub 2010 Dec 2. Circ Cardiovasc Genet. 2011. PMID: 21127202
TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.
Bakhuizen JJ, Hogervorst FB, Velthuizen ME, Ruijs MW, van Engelen K, van Os TA, Gille JJ, Collée M, van den Ouweland AM, van Asperen CJ, Kets CM, Mensenkamp AR, Leter EM, Blok MJ, de Jong MM, Ausems MG. Bakhuizen JJ, et al. Among authors: van asperen cj, van engelen k, van den ouweland am, van os ta. Fam Cancer. 2019 Apr;18(2):273-280. doi: 10.1007/s10689-018-00118-0. Fam Cancer. 2019. PMID: 30607672
Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.
van Engelen K, Postma AV, van de Meerakker JB, Roos-Hesselink JW, Helderman-van den Enden AT, Vliegen HW, Rahman T, Baars MJ, Sels JW, Bauer U, Pickardt T, Sperling SR, Moorman AF, Keavney B, Goodship J, Klaassen S, Mulder BJ. van Engelen K, et al. Among authors: van de meerakker jb. Neth Heart J. 2013 Mar;21(3):113-7. doi: 10.1007/s12471-011-0141-1. Neth Heart J. 2013. PMID: 21604106 Free PMC article.
Familial co-occurrence of congenital heart defects follows distinct patterns.
Ellesøe SG, Workman CT, Bouvagnet P, Loffredo CA, McBride KL, Hinton RB, van Engelen K, Gertsen EC, Mulder BJM, Postma AV, Anderson RH, Hjortdal VE, Brunak S, Larsen LA. Ellesøe SG, et al. Among authors: van engelen k. Eur Heart J. 2018 Mar 21;39(12):1015-1022. doi: 10.1093/eurheartj/ehx314. Eur Heart J. 2018. PMID: 29106500 Free PMC article.
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