Targeted-capture massively-parallel sequencing enables robust detection of clinically informative mutations from formalin-fixed tumours

af Wong, Stephen Q., Li, Jason, Salemi, Renato, Sheppard, Karen E., Hongdo Do, Tothill, Richard W., McArthur, Grant A., Dobrovic, Alexander
Udgivet 2013

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

af Kirby, Denise M., Salemi, Renato, Sugiana, Canny, Ohtake, Akira, Parry, Lee, Bell, Katrina M., Kirk, Edwin P., Boneh, Avihu, Taylor, Robert W., Dahl, Hans-Henrik M., Ryan, Michael T., Thorburn, David R.
Udgivet 2004

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

af Swalwell, Helen, Kirby, Denise M, Blakely, Emma L, Mitchell, Anna, Salemi, Renato, Sugiana, Canny, Compton, Alison G, Tucker, Elena J, Ke, Bi-Xia, Lamont, Phillipa J, Turnbull, Douglass M, McFarland, Robert, Taylor, Robert W, Thorburn, David R
Udgivet 2011

Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

af Sugiana, Canny, Pagliarini, David J., McKenzie, Matthew, Kirby, Denise M., Salemi, Renato, Abu-Amero, Khaled K., Dahl, Hans-Henrik M., Hutchison, Wendy M., Vascotto, Katherine A., Smith, Stacey M., Newbold, Robert F., Christodoulou, John, Calvo, Sarah, Mootha, Vamsi K., Ryan, Michael T., Thorburn, David R.
Udgivet 2008