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by Mills, Ryan E and Walter, Klaudia and Stewart, Chip and Handsaker, Robert E and Chen, Ken and Alkan, Can and Abyzov, Alexej and Yoon, Seungtai Chris and Ye, Kai and Cheetham, R. Keira and Chinwalla, Asif and Conrad, Donald F and Fu, Yutao and Grubert, Fabian and Hajirasouliha, Iman and Hormozdiari, Fereydoun and Iakoucheva, Lilia M and Iqbal, Zamin and Kang, Shuli and Kidd, Jeffrey M and Konkel, Miriam K and Korn, Joshua and Khurana, Ekta and Kural, Deniz and Lam, Hugo Y. K and Leng, Jing and Li, Ruiqiang and Li, Yingrui and Lin, Chang-Yun and Luo, Ruibang and Mu, Xinmeng Jasmine and Nemesh, James and Peckham, Heather E and Rausch, Tobias and Scally, Aylwyn and Shi, Xinghua and Stromberg, Michael P and Sütz, Adrian M and Urban, Alexander Eckehart and Walker, Jerilyn A and Wu, Jiantao and Zhang, Yujun and Zhang, Zhengdong D and Batzer, Mark A and Ding, Li and Marth, Gabor T and McVean, Gil and Sebat, Jonathan and Snyder, Michael and Wang, Jun and Ye, Kenny and Eichler, Evan E and Gerstein, Mark B and Hurles, Matthew E and Lee, Charles and McCarroll, Steven A and Korbel, Jan O and Collins, Francis S and Altshuler, D.L and Durbin, R.M and Abecasis, G.R and Bentley, D.R and Chakravarti, A and Clark, A.G and De La Vega, F.M and Donnelly, P and Egholm, M and Flicek, P and Gabriel, S.B and Gibbs, R.A and Knoppers, B.M and Lander, E.S and Lehrach, H and Mardis, E.R and McVean, G.A and Nickerson, D.A and Peltonen, L and Schafer, A.J and Sherry, S.T and Wilson, R.K and Deiros, D and Metzker, M and Muzny, D and Reid, J and Wheeler, D and Li, J and Jian, M and Li, G and Liang, H and Tian, G and Wang, B and Wang, W and Yang, H and Zhang, X and Zheng, H and Ambrogio, L and Bloom, T and Cibulskis, K and Fennell, T.J and Jaffe, D.B and ... and 1000 Genomes Project
Nature, ISSN 0028-0836, 02/2011, Volume 470, Issue 7332, pp. 59 - 65
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by Sifrim, Alejandro 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 Wright, Michael and Mital, Seema and Daubeney, Piers E.F and Keavney, Bernard and Goodship, Judith and Abu-Sulaiman, Riyadh Mahdi and Klaassen, Sabine and Wright, Caroline F and Firth, Helen V and Barrett, Jeffrey C and Devriendt, Koenraad and Fitzpatrick, David R and Brook, J David and Hurles, Matthew E and INTERVAL Study and Deciphering Dev Disorders Study and UK10K Consortium and the INTERVAL Study and the Deciphering Developmental Disorders Study and the UK10K Consortium
Nature Genetics, ISSN 1061-4036, 09/2016, Volume 48, Issue 9, pp. 1060 - 1065
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... 
DE-NOVO MUTATIONS | GENOTYPE | DISEASE | GENETICS & HEREDITY | FRAMEWORK | RECURRENCE | DISCOVERY | Genetic variation | Exome sequencing | Development and progression | Congenital heart disease | Genetic aspects | Identification and classification | Health aspects | Methods | Heart | Medical research | Biomedical research | Congenital diseases | Funding | Genes | Genomics | Genomes | RNA polymerase | Kinases | Defects | Autism | Mutation
Journal Article
by Gerstein, Hertzel C and Miller, Michael E and Byington, Robert P and Goff, David C and Bigger, J. Thomas and Buse, John B and Cushman, William C and Genuth, Saul and Ismail-Beigi, Faramarz and Grimm, Richard H and Probstfield, Jeffrey L and Simons-Morton, Denise G and Friedewald, William T and Gotto, A.M and Bailey, K and Gohdes, D and Haffner, S and Hiss, R and Jamerson, K and Lee, K and Nathan, D and Sowers, J and Walters, L and Friedewald, W.T and Buse, J.B and Bigger, J.T and Byington, Robert P and Cushman, W.C and Gerstein, H.C and Ginsberg, H.N and Goff, David C and Probstfield, J.L and Simons-Morton, D.G and Gerstein, H.C and Yusuf, S and Punthakee, Z and Russo, R and Anand, S and Cracknell, B and Cukierman-Yaffe, T and Gafni, A and Guyatt, G and Hall, S and Kaszyca, J and Lonn, E and McLeod, D and Read, K and Reiding, V and Shehadeh, N and Tadeson, B and Thompson, K and Vallis, M and Vasudeva, V and Wilderman, I and Punthakee, Z and Smith, A and Stanton, I and Capes, S and Danby, S and Harper, W and Harvey, P and Hunt, D and Manjoo, P and Moroso, A and Otto, R and Prebtani, A and Valla, T and Davis, A and Capes, S and Hill, K.L and McCarthy, V and Edwards, A.L and Mitchell, D.J and Clearwaters, M.A and Dielissen, C and Gillam, M and Hammond, B and Jensen, H and Kherani, A and Lau, D and Pringle, V and Rabi, D and Sigal, R and Smith, C and Walker, M and Williams, G and Joyce, C and Parsons, M and Rowe, B and Burton, J and Chandurkar, V and Coady-McDonald, S and Gibbons, D and Kovacs, C and Murphy, B and Smart, R and Varghese, S and Mereu, L and Ryan, E and Senior, P and ... and The Action to Control Cardiovascular Risk in Diabetes Study Group and Act Control Cardiovasc Risk Diabet and Action to Control Cardiovascular Risk in Diabetes Study Group
The New England Journal of Medicine, ISSN 0028-4793, 06/2008, Volume 358, Issue 24, pp. 2545 - 2559
Journal Article
Journal Article