A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations

by Shahni, Rojeen, Wedatilake, Yehani, Cleary, Maureen A, Lindley, Keith J, Sibson, Keith R, Rahman, Shamima
Published 2013

Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy

by Wedatilake, Yehani, Plagnol, Vincent, Anderson, Glenn, Paine, Simon M. L., Clayton, Peter T., Jacques, Thomas S., Rahman, Shamima
Published 2015

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

TRNT1 deficiency: clinical, biochemical and molecular genetic features

by Wedatilake, Yehani, Niazi, Rojeen, Fassone, Elisa, Powell, Christopher A., Pearce, Sarah, Plagnol, Vincent, Saldanha, José W., Kleta, Robert, Chong, W Kling, Footitt, Emma, Mills, Philippa B., Taanman, Jan-Willem, Minczuk, Michal, Clayton, Peter T., Rahman, Shamima
Published 2016

SURF1 deficiency: a multi-centre natural history study

by Wedatilake, Yehani, Brown, Ruth M, McFarland, Robert, Yaplito-Lee, Joy, Morris, Andrew A M, Champion, Mike, Jardine, Phillip E, Clarke, Antonia, Thorburn, David R, Taylor, Robert W, Land, John M, Forrest, Katharine, Dobbie, Angus, Simmons, Louise, Aasheim, Erlend T, Ketteridge, David, Hanrahan, Donncha, Chakrapani, Anupam, Brown, Garry K, Rahman, Shamima
Published 2013

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

by Reid, Emma S., Papandreou, Apostolos, Drury, Suzanne, Boustred, Christopher, Yue, Wyatt W., Wedatilake, Yehani, Beesley, Clare, Jacques, Thomas S., Anderson, Glenn, Abulhoul, Lara, Broomfield, Alex, Cleary, Maureen, Grunewald, Stephanie, Varadkar, Sophia M., Lench, Nick, Rahman, Shamima, Gissen, Paul, Clayton, Peter T., Mills, Philippa B.
Published 2016