A Novel CpG Island Set Identifies Tissue-Specific Methylation at Developmental Gene Loci

by Illingworth, Robert, Kerr, Alastair, DeSousa, Dina, Jørgensen, Helle, Ellis, Peter, Stalker, Jim, Jackson, David, Clee, Chris, Plumb, Robert, Rogers, Jane, Humphray, Sean, Cox, Tony, Langford, Cordelia, Bird, Adrian
Published 2008

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

by Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Published 2013

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

by Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Published 2013

Genomic Analysis Reveals a Common Breakpoint in Amplifications of the Plasmodium vivax Multidrug Resistance 1 Locus in Thailand

by Auburn, Sarah, Serre, David, Pearson, Richard D., Amato, Roberto, Sriprawat, Kanlaya, To, Sheren, Handayuni, Irene, Suwanarusk, Rossarin, Russell, Bruce, Drury, Eleanor, Stalker, Jim, Miotto, Olivo, Kwiatkowski, Dominic P., Nosten, Francois, Price, Ric N.
Published 2016

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

by Schmidts, Miriam, Arts, Heleen H, Bongers, Ernie M H F, Yap, Zhimin, Oud, Machteld M, Antony, Dinu, Duijkers, Lonneke, Emes, Richard D, Stalker, Jim, Yntema, Jan-Bart L, Plagnol, Vincent, Hoischen, Alexander, Gilissen, Christian, Forsythe, Elisabeth, Lausch, Ekkehart, Veltman, Joris A, Roeleveld, Nel, Superti-Furga, Andrea, Kutkowska-Kazmierczak, Anna, Kamsteeg, Erik-Jan, Elçioğlu, Nursel, van Maarle, Merel C, Graul-Neumann, Luitgard M, Devriendt, Koenraad, Smithson, Sarah F, Wellesley, Diana, Verbeek, Nienke E, Hennekam, Raoul C M, Kayserili, Hulya, Scambler, Peter J, Beales, Philip L, Knoers, Nine VAM, Roepman, Ronald, Mitchison, Hannah M
Published 2013

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

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