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Heart, ISSN 1355-6037, 04/2017, Volume 103, Issue Suppl 3, p. A7
ObjectivesThe Fontan procedure remains the predominant palliative approach for a single ventricle circulation despite many concerns about long-term elevation... 
Journal Article
Heart, ISSN 1355-6037, 06/2018, Volume 104, Issue Suppl 6, p. A2
IntroductionAortic coarctation is most commonly diagnosed in infancy or childhood, with patients subsequently undergoing repair using a variety of surgical... 
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 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
Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1197 - 1204
Journal Article
Nature Communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, p. 11491
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2014, Volume 94, Issue 4, pp. 574 - 585
Journal Article
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 7, pp. 822 - 824
Journal Article
Nature Communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, p. 14279
Journal Article
by Rainger, Joe and Rainger, Jacqueline K and Pehlivan, Davut and Johansson, Stefan and Bengani, Hemant and Sanchez-Pulido, Luis and Williamson, Kathleen A and Ture, Mehmet and Barker, Heather and Rosendahl, Karen and Spranger, Jürgen and Horn, Denise and Meynert, Alison and Floyd, Jamie and Floyd, James A.B and Prescott, Trine and Anderson, Carl and Anderson, Carl A and Karaca, Ender and Gonzaga-Jauregui, Claudia and Jhangiani, Shalini and Muzny, Donna M and Seawright, Anne and Soares, Dinesh C and Kharbanda, Mira and Murday, Victoria and Finch, Andrew and Hurles, Matthew E and Hurles, Matthew and FitzPatrick, David R and FitzPatrick, David R and Al-Turki, Saeed and Barroso, Inês and Beales, Philip and Bentham, Jamie and Bhattacharya, Shoumo and Carss, Keren and Chatterjee, Krishna and Cirak, Sebhattin and Cosgrove, Catherine and Daly, Allan and Franklin, Chris and Futema, Marta and Humphries, Steve and McCarthy, Shane and Mitchison, Hannah and Muntoni, Francesco and Onoufriadis, Alexandros and Parker, Victoria and Payne, Felicity and Plagnol, Vincent and Raymond, Lucy and Savage, David and Scambler, Peter and Schmidts, Miriam and Semple, Robert and Serra, Eva and Stalker, Jim and van Kogelenberg, Margriet and Vijayarangakannan, Parthiban and Walter, Klaudia and Wood, Gretta and Gibbs, Richard A and van Heyningen, Veronica and Taylor, Martin S and Yakut, Tahsin and Knappskog, Per M and Ponting, Chris P and Lupski, James R and Houge, Gunnar and UK10K and Baylor-Hopkins Ctr Mendelian Genom and Baylor-Hopkins Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 06/2014, Volume 94, Issue 6, pp. 915 - 923
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2013, Volume 50, Issue 5, pp. 309 - 323
Journal Article
by Walter, Klaudia and Min, Josine L and Huang, Jie and Crooks, Lucy and Memari, Yasin and McCarthy, Shane and Perry, John and Xu, Changjiang and Futema, Marta and Lawson, Daniel and Iotchkova, Valentina and Schiffels, Stephan and Henicks, Auey E and Danecek, Petr and Li, Rui and Floyd, James and Wain, Louise and Barroso, Inês and Humphries, Steve and Hurles, Matthew and Zeggini, Eleftheria and Barrett, Jeffrey C and Plagnol, Vincent and Richards, Brent and Greenwood, Celia and Timpson, Nicholas and Durbin, Richard and Bala, Senduran and Clapham, Peter and Coates, Guy and Cox, Tony and Daly, Allan and Du, Yuanping and Edkins, Ted and Ellis, Peter and Flicek, Paul and Guo, Xiaosen and Guo, Xueqin and Huang, Liren and Jackson, David K and Joyce, Chris and Keane, Thomas and Kolb-Kokocinski, Anja and Langford, Cordelia and Li, Yingrui and Liang, Jieqin and Lin, Hong and Liu, Ryan and Maslen, John and Muddyman, Dawn and Quail, Michael A and Stalker, Jim and Sun, Jianping and Tian, Jing and Wang, Guangbiao and Wang, Jun and Wang, Yu and Wong, Kim and Zhang, Pingbo and Birney, Ewan and Boustred, Chris and Chen, Lu and Clement, Gail and Cocca, Massimiliano and Smith, G.D and Day, Ian N.M and Day-Williams, Aaron and Down, Thomas and Dunham, David and Evans, David M and Gaunt, Tom and Geihs, Matthias and Hart, Deborah and Howie, Bryan and Hubbard, Tim and Hysi, Pirro and Jamshidi, Yalda and Karczewski, Konrad and Kemp, John and Lachance, Genevieve and Lek, Monkol and Lopes, Margarida and MacArthur, Daniel G and Marchini, Jonathan and Mangino, Massimo and Mathieson, Iain and Metrustry, Sarah and Moayyeri, Alireza and Northstone, Kate and Panoutsopoulou, Kalliope and Paternoster, Lavinia and Quaye, Lydia and Ring, Susan and Ritchie, Graham R.S and Shihab, Hashem A and Shin, So-Youn and Small, Kerrin and Artigas, M.S and Soranzo, Nicole and Southam, Lorraine and ... and UCLEB Consortium and UK10K Consortium and The UK10K