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Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain E, Wilsdon A, Breckpot J, Izarzugaza JMG, Fitzgerald TW, Kahlert AK, Sifrim A, Wünnemann F, Perez-Riverol Y, Abdul-Khaliq H, Bak M, Bassett AS, Benson DW, Berger F, Daehnert I, Devriendt K, Dittrich S, Daubeney PE, Garg V, Hackmann K, Hoff K, Hofmann P, Dombrowsky G, Pickardt T, Bauer U, Keavney BD, Klaassen S, Kramer HH, Marshall CR, Milewicz DM, Lemaire S, Coselli JS, Mitchell ME, Tomita-Mitchell A, Prakash SK, Stamm K, Stewart AFR, Silversides CK, Siebert R, Stiller B, Rosenfeld JA, Vater I, Postma AV, Caliebe A, Brook JD, Andelfinger G, Hurles ME, Thienpont B, Larsen LA, Hitz MP. Audain E, et al. Among authors: keavney bd. PLoS Genet. 2021 Sep 21;17(9):e1009809. doi: 10.1371/journal.pgen.1009809. eCollection 2021 Sep. PLoS Genet. 2021. PMID: 34547032 Free PMC article.
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain E, Wilsdon A, Breckpot J, Izarzugaza JMG, Fitzgerald TW, Kahlert AK, Sifrim A, Wünnemann F, Perez-Riverol Y, Abdul-Khaliq H, Bak M, Bassett AS, Benson DW, Berger F, Daehnert I, Devriendt K, Dittrich S, Daubeney PE, Garg V, Hackmann K, Hoff K, Hofmann P, Dombrowsky G, Pickardt T, Bauer U, Keavney BD, Klaassen S, Kramer HH, Marshall CR, Milewicz DM, Lemaire S, Coselli JS, Mitchell ME, Tomita-Mitchell A, Prakash SK, Stamm K, Stewart AFR, Silversides CK, Siebert R, Stiller B, Rosenfeld JA, Vater I, Postma AV, Caliebe A, Brook JD, Andelfinger G, Hurles ME, Thienpont B, Larsen LA, Hitz MP. Audain E, et al. Among authors: keavney bd. PLoS Genet. 2021 Jul 29;17(7):e1009679. doi: 10.1371/journal.pgen.1009679. eCollection 2021 Jul. PLoS Genet. 2021. PMID: 34324492 Free PMC article.
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T; INTERVAL Study; Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J; UK10K Consortium; Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD; Deciphering Developmental Disorders Study; Hurles ME. Sifrim A, et al. Nat Genet. 2016 Sep;48(9):1060-5. doi: 10.1038/ng.3627. Epub 2016 Aug 1. Nat Genet. 2016. PMID: 27479907 Free PMC article.
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. 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
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.
Škorić-Milosavljević D, Tadros R, Bosada FM, Tessadori F, van Weerd JH, Woudstra OI, Tjong FVY, Lahrouchi N, Bajolle F, Cordell HJ, Agopian AJ, Blue GM, Barge-Schaapveld DQCM, Gewillig M, Preuss C, Lodder EM, Barnett P, Ilgun A, Beekman L, van Duijvenboden K, Bokenkamp R, Müller-Nurasyid M; KORA-Study Group; Vliegen HW, Konings TC, van Melle JP, van Dijk APJ, van Kimmenade RRJ, Roos-Hesselink JW, Sieswerda GT, Meijboom F, Abdul-Khaliq H, Berger F, Dittrich S, Hitz MP, Moosmann J, Riede FT, Schubert S, Galan P, Lathrop M, Munter HM, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Veldink JH, van den Berg LH, Evans S, Nobrega MA, Aneas I, Radivojkov-Blagojević M, Meitinger T, Oechslin E, Mondal T, Bergin L, Smythe JF, Altamirano-Diaz L, Lougheed J, Bouma BJ, Chaix MA, Kline J, Bassett AS, Andelfinger G, van der Palen RLF, Bouvagnet P, Clur SB, Breckpot J, Kerstjens-Frederikse WS, Winlaw DS, Bauer UMM, Mital S, Goldmuntz E, Keavney B, Bonnet D, Mulder BJ, Tanck MWT, Bakkers J, Christoffels VM, Boogerd CJ, Postma AV, Bezzina CR. Škorić-Milosavljević D, et al. Circ Res. 2022 Jan 21;130(2):166-180. doi: 10.1161/CIRCRESAHA.120.317107. Epub 2021 Dec 10. Circ Res. 2022. PMID: 34886679 Free PMC article.
Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development.
Thorsson T, Russell WW, El-Kashlan N, Soemedi R, Levine J, Geisler SB, Ackley T, Tomita-Mitchell A, Rosenfeld JA, Töpf A, Tayeh M, Goodship J, Innis JW, Keavney B, Russell MW. Thorsson T, et al. Congenit Heart Dis. 2015 May-Jun;10(3):193-208. doi: 10.1111/chd.12179. Epub 2014 Apr 11. Congenit Heart Dis. 2015. PMID: 24720490 Free article.
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. 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.
196 results