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

Sifrim, Alejandro; Wright, Michael; Wright, Caroline F.; 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 M. M.; 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; 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; Mital, Seema; Daubeney, Piers E. F.; Keavney, Bernard; Goodship, Judith; Abu-Sulaiman, Riyadh Mahdi; Klaassen, Sabine; Firth, Helen V.; Barrett, Jeffrey C.; Devriendt, Koenraad; FitzPatrick, David R.; Fitzpatrick, D. R.; Brook, J. David; Hurles, Matthew E.; Wilson, Scott

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Alejandro Sifrim
Sifrim et al., 2016

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Nature Research, Nature Genetics, 9(48), p. 1060-1065, 2016

DOI: 10.1038/ng.3627

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@article{Sifrim2016,
  author = {Sifrim, Alejandro and Wright, Michael and Wright, Caroline F. and Hitz, Marc-Phillip and Wilsdon, Anna and Breckpot, Jeroen and Turki, Saeed H. Al and Thienpont, Bernard and McRae, Jeremy and Fitzgerald, Tomas W. and Singh, Tarjinder and Swaminathan, Ganesh Jawahar and Prigmore, Elena and Rajan, Diana and Abdul-Khaliq, Hashim and Banka, Siddharth and Bauer, Ulrike M. M. and Bentham, Jamie and Berger, Felix and Bhattacharya, Shoumo and Bu'Lock, Frances and Canham, Natalie and Colgiu, Irina-Gabriela and Cosgrove, Catherine and Cox, Helen and Daehnert, Ingo and Daly, Allan and Danesh, John and Fryer, Alan and Gewillig, Marc and Hobson, Emma and Hoff, Kirstin and Homfray, Tessa and Kahlert, Anne-Karin and Ketley, Ami and Kramer, Hans-Heiner and Lachlan, Katherine and Lampe, Anne Katrin and Louw, Jacoba J. and Manickara, Ashok Kumar and Manase, Dorin and McCarthy, Karen P. and Metcalfe, Kay and Moore, Carmel and Newbury-Ecob, Ruth and Omer, Seham Osman and Ouwehand, Willem H. and Park, Soo-Mi and Parker, Michael J. and Pickardt, Thomas and Pollard, Martin O. and Robert, Leema and Roberts, David J. and Sambrook, Jennifer and Setchfield, Kerry and Stiller, Brigitte and Thornborough, Chris and Toka, Okan and Watkins, Hugh and Williams, Denise and Mital, Seema and Daubeney, Piers E. F. and Keavney, Bernard and Goodship, Judith and Abu-Sulaiman, Riyadh Mahdi and Klaassen, Sabine and Firth, Helen V. and Barrett, Jeffrey C. and Devriendt, Koenraad and FitzPatrick, David R. and Fitzpatrick, D. R. and Brook, J. David and Hurles, Matthew E. and Wilson, Scott},
  doi = {10.1038/ng.3627},
  journal = {Nature Genetics},
  month = {aug},
  pages = {1060-1065},
  title = {Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing},
  url = {http://www.nature.com/articles/ng.3627.pdf},
  volume = {48},
  year = {2016}
}

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