A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes.

Por Manuela Zanda, Suna Onengut-Gumuscu, Neil Walker, Corina Shtir, Daniel Gallo, Chris Wallace, Deborah Smyth, John A Todd, Matthew E Hurles, Vincent Plagnol, Stephen S Rich
Publicado em 2014-01-01

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

Por Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna
Publicado em 2013-06-01

Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.

Por James A Traherne, Roger Horton, Anne N Roberts, Marcos M Miretti, Matthew E Hurles, C Andrew Stewart, Jennifer L Ashurst, Alexey M Atrazhev, Penny Coggill, Sophie Palmer, Jeff Almeida, Sarah Sims, Laurens G Wilming, Jane Rogers, Pieter J de Jong, Mary Carrington, John F Elliott, Stephen Sawcer, John A Todd, John Trowsdale, Stephan Beck
Publicado em 2006-01-01