Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality

por Dawes, Ruebena, Lek, Monkol, Cooper, Sandra T.
Publicado 2019

Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data

por Dawes, Ruebena, Joshi, Himanshu, Cooper, Sandra T.
Publicado 2022

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins

por Lek, Angela, Lek, Monkol, North, Kathryn N, Cooper, Sandra T
Publicado 2010

The Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus

por Serebryannyy, Leonid A., Yuen, Michaela, Parilla, Megan, Cooper, Sandra T., de Lanerolle, Primal
Publicado 2016

SpliceVault predicts the precise nature of variant-associated mis-splicing

por Dawes, Ruebena, Bournazos, Adam M., Bryen, Samantha J., Bommireddipalli, Shobhana, Marchant, Rhett G., Joshi, Himanshu, Cooper, Sandra T.
Publicado 2023

Dopamine-2 receptor extracellular N-terminus regulates receptor surface availability and is the target of human pathogenic antibodies from children with movement and psychiatric di...

por Sinmaz, Nese, Tea, Fiona, Pilli, Deepti, Zou, Alicia, Amatoury, Mazen, Nguyen, Tina, Merheb, Vera, Ramanathan, Sudarshini, Cooper, Sandra T., Dale, Russell C., Brilot, Fabienne
Publicado 2016

Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient

por Miller, David K., Menezes, Minal J., Simons, Cas, Riley, Lisa G., Cooper, Sandra T., Grimmond, Sean M., Thorburn, David R., Christodoulou, John, Taft, Ryan J.
Publicado 2014

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

por Riley, Lisa G, Menezes, Minal J, Rudinger-Thirion, Joëlle, Duff, Rachael, de Lonlay, Pascale, Rotig, Agnes, Tchan, Michel C, Davis, Mark, Cooper, Sandra T, Christodoulou, John
Publicado 2013

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant

por Katz, Matthew, Waddell, Leigh B., Yuen, Michaela, Bryen, Samantha J., Oates, Emily, Garton, Fleur C., Robertson, Thomas, Henderson, Robert David, Cooper, Sandra T., McCombe, Pamela A.
Publicado 2023

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant

por Yuen, Michaela, Worgan, Lisa, Iwanski, Jessika, Pappas, Christopher T., Joshi, Himanshu, Churko, Jared M., Arbuckle, Susan, Kirk, Edwin P., Zhu, Ying, Roscioli, Tony, Gregorio, Carol C., Cooper, Sandra T.
Publicado 2022

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

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

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

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

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

por Schofield, Deborah, Alam, Khurshid, Douglas, Lyndal, Shrestha, Rupendra, MacArthur, Daniel G., Davis, Mark, Laing, Nigel G., Clarke, Nigel F., Burns, Joshua, Cooper, Sandra T., North, Kathryn N., Sandaradura, Sarah A., O’Grady, Gina L.
Publicado 2017

A Pathway to Precision Medicine for Aboriginal Australians: A Study Protocol

por Cheng, Yeu-Yao, Nunn, Jack, Skinner, John, Rambaldini, Boe, Boughtwood, Tiffany, Calma, Tom, Brown, Alex, Meldrum, Cliff, Dinger, Marcel E., Byrne, Jennifer A., McCowen, Debbie, Potter, Jayden, Faires, Kerry, Cooper, Sandra, Gwynne, Kylie
Publicado 2021

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

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

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

por Evesson, Frances J, Dziaduch, Gregory, Bryen, Samantha J, Moore, Francesca, Pittman, Sara, Devanapalli, Beena, Waddell, Leigh B, Ryan, Monique M, Menezes, Manoj P, Weihl, Conrad C, Tolun, Adviye Ayper, Zaidman, Craig, Young, Helen, Adès, Lesley C, Cooper, Sandra T
Publicado 2023

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

por Massey, Sean, Guo, Yiran, Riley, Lisa G., Van Bergen, Nicole J., Sandaradura, Sarah A., McCusker, Elizabeth, Tchan, Michel, Thauvin-Robinet, Christel, Thomas, Quentin, Moreau, Thibault, Davis, Mark, Smits, Daphne, Mancini, Grazia M.S., Hakonarson, Hakon, Cooper, Sandra, Christodoulou, John
Publicado 2023

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function

por Sztal, Tamar E., Zhao, Mo, Williams, Caitlin, Oorschot, Viola, Parslow, Adam C., Giousoh, Aminah, Yuen, Michaela, Hall, Thomas E., Costin, Adam, Ramm, Georg, Bird, Phillip I., Busch-Nentwich, Elisabeth M., Stemple, Derek L., Currie, Peter D., Cooper, Sandra T., Laing, Nigel G., Nowak, Kristen J., Bryson-Richardson, Robert J.
Publicado 2015

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

por Van Bergen, Nicole J., Gunanayagam, Karen, Bournazos, Adam M., Walvekar, Adhish S., Warmoes, Marc O., Semcesen, Liana N., Lunke, Sebastian, Bommireddipalli, Shobhana, Sikora, Tim, Patraskaki, Myrto, Jones, Dean L., Garza, Denisse, Sebire, Dale, Gooley, Samuel, McLean, Catriona A., Naidoo, Parm, Rajasekaran, Mugil, Stroud, David A., Linster, Carole L., Wallis, Mathew, Cooper, Sandra T., Christodoulou, John
Publicado 2023

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase

por Waddell, Leigh B., Bryen, Samantha J., Cummings, Beryl B., Bournazos, Adam, Evesson, Frances J., Joshi, Himanshu, Marshall, Jamie L., Tukiainen, Taru, Valkanas, Elise, Weisburd, Ben, Sadedin, Simon, Davis, Mark R., Faiz, Fathimath, Gooding, Rebecca, Sandaradura, Sarah A., O'Grady, Gina L., Tchan, Michel C., Mowat, David R., Oates, Emily C., Farrar, Michelle A., Sampaio, Hugo, Ma, Alan, Neas, Katherine, Wang, Min-Xia, Charlton, Amanda, Chan, Charles, Kenwright, Diane N., Graf, Nicole, Arbuckle, Susan, Clarke, Nigel F., MacArthur, Daniel G., Jones, Kristi J., Lek, Monkol, Cooper, Sandra T.
Publicado 2021