Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle function

by Christian M. Girgis, Kuan Minn Cha, Benjamin So, Michael Tsang, Jennifer Chen, Peter J. Houweling, Aaron Schindeler, Rebecca Stokes, Michael M. Swarbrick, Frances J. Evesson, Sandra T. Cooper, Jenny E. Gunton
Published 2019-12-01

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

by Samantha J. Bryen, Michaela Yuen, Himanshu Joshi, Ruebena Dawes, Katharine Zhang, Jessica K. Lu, Kristi J. Jones, Christina Liang, Wui-Kwan Wong, Anthony J. Peduto, Leigh B. Waddell, Frances J. Evesson, Sandra T. Cooper
Published 2022-10-01

Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice

by Joe Yasa, Claudia E. Reed, Adam M. Bournazos, Frances J. Evesson, Ignatius Pang, Mark E. Graham, Jesse R. Wark, Brunda Nijagal, Kim H. Kwan, Thomas Kwiatkowski, Rachel Jung, Noah Weisleder, Sandra T. Cooper, Frances A. Lemckert
Published 2023-01-01

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

by Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay S. Ganesh, Roula Ghaoui, Kristi J. Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O'Donnell‐Luria, Gina L. O'Grady, Ikeoluwa A. Osei‐Owusu, Haloom Rafehi, Stephen W. Reddel, Richard H. Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper
Published 2024-05-01