Search Results - Sandra T. Cooper

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  1. 1

    Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant by Matthew Katz, Leigh B. Waddell, Leigh B. Waddell, Michaela Yuen, Michaela Yuen, Samantha J. Bryen, Samantha J. Bryen, Emily Oates, Fleur C. Garton, Thomas Robertson, Thomas Robertson, Robert David Henderson, Sandra T. Cooper, Sandra T. Cooper, Sandra T. Cooper, Pamela A. McCombe, Pamela A. McCombe

    Published in Frontiers in Neurology (2023-01-01)
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  2. 2

    Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex “No Mutations Identified” Cohort by Clara W. T. Chung, Adam M. Bournazos, Lok Chi Denise Chan, Vanessa Sarkozy, John Lawson, Sean E. Kennedy, Sandra T. Cooper, Edwin P. Kirk, David Mowat

    Published in Molecular Genetics & Genomic Medicine (2024-10-01)
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  3. 3

    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 in Journal of Cachexia, Sarcopenia and Muscle (2019-12-01)
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  4. 4

    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 in HGG Advances (2022-10-01)
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  5. 5

    Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases by Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G. MacArthur, Mark Davis, Nigel G. Laing, Nigel F. Clarke, Joshua Burns, Sandra T. Cooper, Kathryn N. North, Sarah A. Sandaradura, Gina L. O’Grady

    Published in npj Genomic Medicine (2017-03-01)
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  6. 6

    Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disorders by Natalie Y. Lim, Christian E. Meagher, Ann Bye, Michelle Lorentzos, Russell C. Dale, Shekeeb Mohammad, Katherine B. Howell, Elizabeth E. Palmer, Ian R. Woodcock, Emma Macdonald-Laurs, Anne Preisz, Nadia Badawi, Sandra T. Cooper, Stephen C. Hille, Toby N. Trahair, Anita Cairns, Nicholas Smith, Michelle A. Farrar, Didu S. Kariyawasam

    Published in Neurotherapeutics (2026-04-01)
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  7. 7

    Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia by Frances J. Evesson, Gregory Dziaduch, Joe Yasa, Heather A. Best, Leonit Kiriaev, Ignatius Pang, Vanessa Jones, Emma Kettle, Katharine Zhang, Ann-Katrin Piper, Jesse R. Wark, Isaac Scott, Himanshu Joshi, R. Bryan Sutton, Patrick P. L. Tam, Peter J. Houweling, Mark E. Graham, Michaela Yuen, Frances A. Lemcket, Sandra T. Cooper

    Published in Acta Neuropathologica Communications (2026-03-01)
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  8. 8

    Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy by Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maiga, Kelly Macalalad, Amanda R. Clause, Jacques S. Beckmann, Lucas Bronicki, Sandra T. Cooper, Vijay S. Ganesh, Peter B. Kang, Akanchha Kesari, Monkol Lek, Jennifer Levy, Laura Rufibach, Marco Savarese, Melissa J. Spencer, Volker Straub, Giorgio Tasca, Conrad C. Weihl

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  9. 9

    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

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  10. 10

    Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases by Daniella H. Hock, Nikeisha J. Caruana, Liana N. Semcesen, Nicole J. Lake, Luke E. Formosa, Sumudu S. C. Amarasekera, Tegan Stait, Simone Tregoning, Leah E. Frajman, Adam M. Bournazos, David R. L. Robinson, Megan Ball, Boris Reljic, Bryony Ryder, Mathew J. Wallis, Anand Vasudevan, Cara Beck, Heidi Peters, Joy Lee, Natalie B. Tan, Mary-Louise Freckmann, MitoMDT Diagnostic Network for Genomics and Omics, Vasiliki Karlaftis, Chantal Attard, Paul Monagle, Amanda Samarasinghe, Rosie Brown, Weimin Bi, Monkol Lek, Robert McFarland, Robert W. Taylor, Michael T. Ryan, Sandra T. Cooper, Zornitza Stark, John Christodoulou, Alison G. Compton, David R. Thorburn, David A. Stroud

    Published in Genome Medicine (2025-05-01)
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