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Olcese, Chiara and Patel, Mitali P. and Shoemark, Amelia and Kiviluoto, Santeri and Legendre, Marie and Williams, Hywel J. and Vaughan, Cara K. and Hayward, Jane and Goldenberg, Alice and Emes, Richard D. and Munye, Mustafa M. and Dyer, Laura and Cahill, Thomas and Bevillard, Jeremy and Gehrig, Corinne and Guipponi, Michel and Chantot, Sandra and Duquesnoy, Philippe and Thomas, Lucie and Jeanson, Ludovic and Copin, Bruno and Tamalet, Aline and Thauvin-Robinet, Christel and Papon, Jean- François and Garin, Antoine and Pin, Isabelle and Vera, Gabriella and Aurora, Paul and Fassad, Mahmoud R. and Jenkins, Lucy and Boustred, Christopher and Cullup, Thomas and Dixon, Mellisa and Onoufriadis, Alexandros and Bush, Andrew and Chung, Eddie M. K. and Antonarakis, Stylianos E. and Loebinger, Michael R. and Wilson, Robert and Armengot, Miguel and Escudier, Estelle and Hogg, Claire and Al-Turki, Saeed and Anderson, Carl and Antony, Dinu and Barroso, Inês and Beales, Philip L. and Bentham, Jamie and Bhattacharya, Shoumo and Carss, Keren and Chatterjee, Krishna and Cirak, Sebahattin and Cosgrove, Catherine and Allan, Daly and Durbin, Richard and Fitzpatrick, David and Floyd, Jamie and Foley, A. Reghan and Franklin, Chris and Futema, Marta and Humphries, Steve E. and Hurles, Matt and McCarthy, Shane and Muddyman, Dawn and Muntoni, Francesco and Parker, Victoria and Payne, Felicity and Plagnol, Vincent and Raymond, Lucy and Savage, David B. and Scambler, Peter J. and Schmidts, Miriam and Semple, Robert and Serra, Eva and Stalker, Jim and van Kogelenberg, Margriet and Vijayarangakannan, Parthiban and Walter, Klaudia and Amselem, Serge and Sun, Zhaoxia and Bartoloni, Lucia and Blouin, Jean-Louis and Mitchison, Hannah M. (2017) X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications, 8 . p. 14279. ISSN 2041-1723

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 A. 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, Christopher 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. (2016) Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genetics, 48 (9). pp. 1060-1065. ISSN 1546-1718