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Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
Izarzugaza JMG, Ellesøe SG, Doganli C, Ehlers NS, Dalgaard MD, Audain E, Dombrowsky G, Banasik K, Sifrim A, Wilsdon A, Thienpont B, Breckpot J, Gewillig M; Competence Network for Congenital Heart Defects, Germany; Brook JD, Hitz MP, Larsen LA, Brunak S. Izarzugaza JMG, et al. Among authors: ellesoe sg. Genome Med. 2020 Aug 28;12(1):76. doi: 10.1186/s13073-020-00772-z. Genome Med. 2020. PMID: 32859249 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. Eur Heart J. 2018 Mar 21;39(12):1015-1022. doi: 10.1093/eurheartj/ehx314. Eur Heart J. 2018. PMID: 29106500 Free PMC article.