The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome

Por Gold, Wendy Anne, Christodoulou, John
Publicado no Front Cell Neurosci (2015)

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

Por Nafisinia, Michael, Riley, Lisa G., Gold, Wendy A., Bhattacharya, Kaustuv, Broderick, Carolyn R., Thorburn, David R., Simons, Cas, Christodoulou, John
Publicado no PLoS One (2017)

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease

Por Alodaib, Ahmad, Sobreira, Nara, Gold, Wendy A, Riley, Lisa G, Van Bergen, Nicole J, Wilson, Meredith J, Bennetts, Bruce, Thorburn, David R, Boehm, Corinne, Christodoulou, John
Publicado no Eur J Hum Genet (2017)

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder

Por Nafisinia, Michael, Guo, Yiran, Dang, Xiao, Li, Jiankang, Chen, Yulan, Zhang, Jianguo, Lake, Nicole J., Gold, Wendy A., Riley, Lisa G., Thorburn, David R., Keating, Brendan, Xu, Xun, Hakonarson, Hakon, Christodoulou, John
Publicado no JIMD Rep (2016)

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Por Foley, A. Reghan, Menezes, Manoj P., Pandraud, Amelie, Gonzalez, Michael A., Al-Odaib, Ahmad, Abrams, Alexander J., Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y., Burns, Joshua, Hughes, Imelda, McCullagh, B. Gary, Jungbluth, Heinz, Lim, Ming J., Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J. Andoni, Shah, Ayaz H., Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A., O’Byrne, James J., Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O’Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M., Wang, Min X., Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O., Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L., Scherer, Steven S., Baxter, Peter S., King, Mary D., Clayton, Peter, Rahman, Shamima, Reilly, Mary M., Ouvrier, Robert A., Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, Houlden, Henry
Publicado em 2014