Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Autor: Sifrim, Alejandro, Hitz, Marc-Phillip, Wilsdon, Anna, Breckpot, Jeroen, Turki, Saeed H Al, Thienpont, Bernard, McRae, Jeremy, Fitzgerald, Tomas W, Singh, Tarjinder, Swaminathan, Ganesh Jawahar, Prigmore, Elena, Rajan, Diana, Abdul-Khaliq, Hashim, Banka, Siddharth, Bauer, Ulrike MM, Bentham, Jamie, Berger, Felix, Bhattacharya, Shoumo, Bu'Lock, Frances, Canham, Natalie, Colgiu, Irina-Gabriela, Cosgrove, Catherine, Cox, Helen, Daehnert, Ingo, Daly, Allan, Danesh, John, Fryer, Alan, Gewillig, Marc, Hobson, Emma, Hoff, Kirstin, Homfray, Tessa, INTERVAL Study, Kahlert, Anne-Karin, Ketley, Ami, Kramer, Hans-Heiner, Lachlan, Katherine, Lampe, Anne Katrin, Louw, Jacoba J, Manickara, Ashok Kumar, Manase, Dorin, McCarthy, Karen P, Metcalfe, Kay, Moore, Carmel, Newbury-Ecob, Ruth, Omer, Seham Osman, Ouwehand, Willem H, Park, Soo-Mi, Parker, Michael J, Pickardt, Thomas, Pollard, Martin O, Robert, Leema, Roberts, David J, Sambrook, Jennifer, Setchfield, Kerry, Stiller, Brigitte, Thornborough, Chris, Toka, Okan, Watkins, Hugh, Williams, Denise, Wright, Michael, Mital, Seema, Daubeney, Piers EF, Keavney, Bernard, Goodship, Judith, UK10K Consortium, Abu-Sulaiman, Riyadh Mahdi, Klaassen, Sabine, Wright, Caroline F, Firth, Helen V, Barrett, Jeffrey C, Devriendt, Koenraad, FitzPatrick, David R, Brook, J David, Deciphering Developmental Disorders Study, Hurles, Matthew E

Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable role for de novo mutat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af0d31d8fa27677ec04d01f305c8240e
https://www.repository.cam.ac.uk/handle/1810/269425

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.: Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

Autor: Cordell, Heather J, Bentham, Jamie, Topf, Ana, Zelenika, Diana, Heath, Simon, Mamasoula, Chrysovalanto, Cosgrove, Catherine, Blue, Gillian, Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Breckpot, Jeroen, Soemedi, Rachel, Martin, Ruairidh, Rahman, Thahira J, Hall, Darroch, van Engelen, Klaartje, Moorman, Antoon F, Zwinderman, Aelko H, Barnett, Phil, Koopmann, Tamara T, Adriaens, Michiel E, Varro, Andras, George, Alfred L, dos Remedios, Christobal, Bishopric, Nanette H, Bezzina, Connie R, O'Sullivan, John, Gewillig, Marc, Bu'Lock, Frances A, Winlaw, David, Bhattacharya, Shoumo, Devriendt, Koen, Brook, JD, Mulder, Barbara J, Mital, Seema, Postma, Alex V, Lathrop, GM, Farrall, Martin, Goodship, Judith A, Keavney, Bernard D

Publikováno v: Nature Genetics, 45(7), 822-824. Nature Publishing Group

We carried out a genome-wide association study (GWAS) of congenital heart disease (CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls and included affected individuals from each of the 3 major clinical CHD categories (with septal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::830cb320dfde4f868e0648f5a6dcbd5f
https://cris.maastrichtuniversity.nl/en/publications/c89bdd85-bac2-40bc-9d66-c760ffda9aa4

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Association Between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease.

Autor: Mamasoula, Chrysovalanto, Prentice, R. Reid, Pierscionek, Tomasz, Pangilinan, Faith, Mills, James L., Druschel, Charlotte, Pass, Kenneth, Russell, Mark W., Hall, Darroch, Töpf, Ana, Brown, Danielle L., Zelenika, Diana, Bentham, Jamie, Cosgrove, Catherine, Bhattacharya, Shoumo, Riveron, Javier Granados, Setchfield, Kerry, Brook, J. David, Bu’Lock, Frances A., Thornborough, Chris

Publikováno v: Circulation: Cardiovascular Genetics; Aug2013, Vol. 6 Issue 4, p347-353, 7p