Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia

Por Tasca, Giorgio, Odgerel, Zagaa, Monforte, Mauro, Aurino, Stefania, Clarke, Nigel F., Waddell, Leigh B., Udd, Bjarne, Ricci, Enzo, Goldfarb, Lev G.
Publicado em 2012

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

Por Tajsharghi, Homa, Hammans, Simon, Lindberg, Christopher, Lossos, Alexander, Clarke, Nigel F, Mazanti, Ingrid, Waddell, Leigh B, Fellig, Yakov, Foulds, Nicola, Katifi, Haider, Webster, Richard, Raheem, Olayinka, Udd, Bjarne, Argov, Zohar, Oldfors, Anders
Publicado em 2014

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients

Por Waddell, Leigh B., Tran, Jenny, Zheng, Xi F., Bönnemann, Carsten G., Hu, Ying, Evesson, Frances J., Lek, Monkol, Arbuckle, Susan, Wang, Min-Xia, Smith, Robert L., North, Kathryn N., Clarke, Nigel F.
Publicado no Neuromuscul Disord (2011)

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

Por Clarke, Nigel F., Amburgey, Kimberly, Teener, James, Camelo-Piragua, Sandra, Kesari, Akanchha, Punetha, Jaya, Waddell, Leigh B., Davis, Mark, Laing, Nigel G., Monnier, Nicole, North, Kathryn N., Hoffman, Eric P., Dowling, James J.
Publicado em 2013

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

Por Sandaradura, Sarah A, Bournazos, Adam, Mallawaarachchi, Amali, Cummings, Beryl B, Waddell, Leigh B, Jones, Kristi J, Troedson, Christopher, Sudarsanam, Annapurna, Nash, Benjamin M, Peters, Gregory B, Algar, Elizabeth M, MacArthur, Daniel G, North, Kathryn N, Brammah, Susan, Charlton, Amanda, Laing, Nigel G, Wilson, Meredith J, Davis, Mark R, Cooper, Sandra T
Publicado no Hum Mutat (2018)

Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy

Por Kirk, Edwin P. , Sunde, Margaret , Costa, Mauro W. , Rankin, Scott A. , Wolstein, Orit , Castro, M. Leticia , Butler, Tanya L. , Hyun, Changbaig , Guo, Guanglan , Otway, Robyn , Mackay, Joel P. , Waddell, Leigh B. , Cole, Andrew D. , Hayward, Christopher , Keogh, Anne , Macdonald, Peter , Griffiths, Lyn , Fatkin, Diane , Sholler, Gary F. , Zorn, Aaron M. , Feneley, Michael P. , Winlaw, David S. , Harvey, Richard P. 
Publicado em 2007

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Por Ilkovski, Biljana, Pagnamenta, Alistair T., O'Grady, Gina L., Kinoshita, Taroh, Howard, Malcolm F., Lek, Monkol, Thomas, Brett, Turner, Anne, Christodoulou, John, Sillence, David, Knight, Samantha J.L., Popitsch, Niko, Keays, David A., Anzilotti, Consuelo, Goriely, Anne, Waddell, Leigh B., Brilot, Fabienne, North, Kathryn N., Kanzawa, Noriyuki, Macarthur, Daniel G., Taylor, Jenny C., Kini, Usha, Murakami, Yoshiko, Clarke, Nigel F.
Publicado no Hum Mol Genet (2015)

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Por Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco
Publicado em 2013

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Por Cummings, Beryl B., Marshall, Jamie L., Tukiainen, Taru, Lek, Monkol, Donkervoort, Sandra, Foley, A. Reghan, Bolduc, Veronique, Waddell, Leigh B., Sandaradura, Sarah A., O’Grady, Gina L., Estrella, Elicia, Reddy, Hemakumar M., Zhao, Fengmei, Weisburd, Ben, Karczewski, Konrad J., O’Donnell-Luria, Anne H., Birnbaum, Daniel, Sarkozy, Anna, Hu, Ying, Gonorazky, Hernan, Claeys, Kristl, Joshi, Himanshu, Bournazos, Adam, Oates, Emily C., Ghaoui, Roula, Davis, Mark R., Laing, Nigel G., Topf, Ana, Kang, Peter B., Beggs, Alan H., North, Kathryn N., Straub, Volker, Dowling, James J., Muntoni, Francesco, Clarke, Nigel F., Cooper, Sandra T., Bönnemann, Carsten G., MacArthur, Daniel G.
Publicado no Sci Transl Med (2017)

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Por O’Grady, Gina L., Best, Heather A., Sztal, Tamar E., Schartner, Vanessa, Sanjuan-Vazquez, Myriam, Donkervoort, Sandra, Abath Neto, Osorio, Sutton, Roger Bryan, Ilkovski, Biljana, Romero, Norma Beatriz, Stojkovic, Tanya, Dastgir, Jahannaz, Waddell, Leigh B., Boland, Anne, Hu, Ying, Williams, Caitlin, Ruparelia, Avnika A., Maisonobe, Thierry, Peduto, Anthony J., Reddel, Stephen W., Lek, Monkol, Tukiainen, Taru, Cummings, Beryl B., Joshi, Himanshu, Nectoux, Juliette, Brammah, Susan, Deleuze, Jean-François, Ing, Viola Oorschot, Ramm, Georg, Ardicli, Didem, Nowak, Kristen J., Talim, Beril, Topaloglu, Haluk, Laing, Nigel G., North, Kathryn N., MacArthur, Daniel G., Friant, Sylvie, Clarke, Nigel F., Bryson-Richardson, Robert J., Bönnemann, Carsten G., Laporte, Jocelyn, Cooper, Sandra T.
Publicado no Am J Hum Genet (2016)

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Por Yuen, Michaela, Sandaradura, Sarah A., Dowling, James J., Kostyukova, Alla S., Moroz, Natalia, Quinlan, Kate G., Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J., Ceyhan-Birsoy, Ozge, Gokhin, David S., Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T., Novak, Stefanie M., D’Amico, Adele, Malfatti, Edoardo, Thomas, Brett P., Gabriel, Stacey B., Gupta, Namrata, Daly, Mark J., Ilkovski, Biljana, Houweling, Peter J., Davidson, Ann E., Swanson, Lindsay C., Brownstein, Catherine A., Gupta, Vandana A., Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P., Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B., Sloboda, Darcée D., Bertini, Enrico, Chitayat, David, Telfer, William R., Laquerrière, Annie, Gregorio, Carol C., Ottenheijm, Coen A.C., Bönnemann, Carsten G., Pelin, Katarina, Beggs, Alan H., Hayashi, Yukiko K., Romero, Norma B., Laing, Nigel G., Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M., MacArthur, Daniel G., North, Kathryn N., Clarke, Nigel F.
Publicado no J Clin Invest (2014)

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Por Yuen, Michaela, Sandaradura, Sarah A., Dowling, James J., Kostyukova, Alla S., Moroz, Natalia, Quinlan, Kate G., Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J., Ceyhan-Birsoy, Ozge, Gokhin, David S., Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T., Novak, Stefanie M., D’Amico, Adele, Malfatti, Edoardo, Thomas, Brett P., Gabriel, Stacey B., Gupta, Namrata, Daly, Mark J., Ilkovski, Biljana, Houweling, Peter J., Davidson, Ann E., Swanson, Lindsay C., Brownstein, Catherine A., Gupta, Vandana A., Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P., Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B., Sloboda, Darcée D., Bertini, Enrico, Chitayat, David, Telfer, William R., Laquerrière, Annie, Gregorio, Carol C., Ottenheijm, Coen A.C., Bönnemann, Carsten G., Pelin, Katarina, Beggs, Alan H., Hayashi, Yukiko K., Romero, Norma B., Laing, Nigel G., Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M., MacArthur, Daniel G., North, Kathryn N., Clarke, Nigel F.
Publicado no J Clin Invest (2015)