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Journal Article
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 the INTERVAL Study and the Deciphering Developmental Disorders Study and the UK10K Consortium and INTERVAL Study and Deciphering Dev Disorders Study and UK10K Consortium
Nature genetics, ISSN 1546-1718, 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
Nature genetics, ISSN 1546-1718, 2015, Volume 47, Issue 6, pp. 647 - 653
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 2014, Volume 124, Issue 4, pp. 1844 - 1852
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, p. e0126873
Journal Article
Journal Article
American journal of human genetics, ISSN 0002-9297, 2014, Volume 94, Issue 4, pp. 574 - 585
Journal Article