Molecular Consequences of the Myopathy-Related D286G Mutation on Actin Function

by Jun Fan, Jun Fan, Chun Chan, Elyshia L. McNamara, Kristen J. Nowak, Kristen J. Nowak, Kristen J. Nowak, Hiroyuki Iwamoto, Julien Ochala
Published 2018-12-01

Optimizing Precision Medicine for Public Health

by Gemma A. Bilkey, Gemma A. Bilkey, Belinda L. Burns, Emily P. Coles, Trinity Mahede, Gareth Baynam, Gareth Baynam, Gareth Baynam, Kristen J. Nowak, Kristen J. Nowak, Kristen J. Nowak
Published 2019-03-01

Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness.

by Julien Ochala, Gianina Ravenscroft, Nigel G Laing, Kristen J Nowak
Published 2012-01-01

The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future

by Caron M. Molster, Faye L. Bowman, Gemma A. Bilkey, Gemma A. Bilkey, Angela S. Cho, Belinda L. Burns, Kristen J. Nowak, Kristen J. Nowak, Kristen J. Nowak, Hugh J. S. Dawkins, Hugh J. S. Dawkins, Hugh J. S. Dawkins, Hugh J. S. Dawkins
Published 2018-09-01

Descriptive epidemiological study of rare, less common and common cancers in Western Australia

by Gemma A. Bilkey, Richard W. Trevithick, Emily P. Coles, Jennifer Girschik, Kristen J. Nowak
Published 2021-07-01

Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus

by Belinda L. Burns, Gemma A. Bilkey, Gemma A. Bilkey, Emily P. Coles, Faye L. Bowman, John P. Beilby, John P. Beilby, Nicholas S. Pachter, Nicholas S. Pachter, Gareth Baynam, Gareth Baynam, Gareth Baynam, Hugh J. S. Dawkins, Hugh J. S. Dawkins, Hugh J. S. Dawkins, Hugh J. S. Dawkins, Tarun S. Weeramanthri, Tarun S. Weeramanthri, Kristen J. Nowak, Kristen J. Nowak, Kristen J. Nowak
Published 2019-03-01

Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges

by Gemma A. Bilkey, Gemma A. Bilkey, Belinda L. Burns, Emily P. Coles, Faye L. Bowman, John P. Beilby, John P. Beilby, Nicholas S. Pachter, Nicholas S. Pachter, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Hugh J. S. Dawkins, Hugh J. S. Dawkins, Hugh J. S. Dawkins, Hugh J. S. Dawkins, Kristen J. Nowak, Kristen J. Nowak, Kristen J. Nowak, Tarun S. Weeramanthri, Tarun S. Weeramanthri
Published 2019-03-01

Multimodal MRI and (31)P-MRS investigations of the ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure...

by Charlotte Gineste, Guillaume Duhamel, Yann Le Fur, Christophe Vilmen, Patrick J Cozzone, Kristen J Nowak, David Bendahan, Julien Gondin
Published 2013-01-01

Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic v...

by Joshua S. Clayton, Carolin K. Scriba, Norma B. Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Published 2021-08-01

Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in...

by Joshua S. Clayton, Carolin K. Scriba, Norma B. Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Published 2021-05-01

Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation

by Jordan K. Boutilier, Rhonda L. Taylor, Tracy Mann, Elyshia McNamara, Gary J. Hoffman, Jacob Kenny, Rodney J. Dilley, Peter Henry, Grant Morahan, Nigel G. Laing, Kristen J. Nowak
Published 2017-09-01

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

by Gianina Ravenscroft, Connie Jackaman, Caroline A Sewry, Elyshia McNamara, Sarah E Squire, Allyson C Potter, John Papadimitriou, Lisa M Griffiths, Anthony J Bakker, Kay E Davies, Nigel G Laing, Kristen J Nowak
Published 2011-01-01

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy

by Joshua S. Clayton, Elyshia L. McNamara, Hayley Goullee, Stefan Conijn, Keren Muthsam, Gabrielle C. Musk, David Coote, James Kijas, Alison C. Testa, Rhonda L. Taylor, Amanda J. O’Hara, David Groth, Coen Ottenheijm, Gianina Ravenscroft, Nigel G. Laing, Kristen J. Nowak
Published 2020-08-01

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

by Sarah J. Beecroft, Kyle S. Yau, Richard J. N. Allcock, Kym Mina, Rebecca Gooding, Fathimath Faiz, Vanessa J. Atkinson, Cheryl Wise, Padma Sivadorai, Daniel Trajanoski, Nina Kresoje, Royston Ong, Rachael M. Duff, Macarena Cabrera‐Serrano, Kristen J. Nowak, Nicholas Pachter, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Nigel G. Laing
Published 2020-03-01

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

by Jenni M. Laitila, Elyshia L. McNamara, Catherine D. Wingate, Hayley Goullee, Jacob A. Ross, Rhonda L. Taylor, Robbert van der Pijl, Lisa M. Griffiths, Rachel Harries, Gianina Ravenscroft, Joshua S. Clayton, Caroline Sewry, Michael W. Lawlor, Coen A. C. Ottenheijm, Anthony J. Bakker, Julien Ochala, Nigel G. Laing, Carina Wallgren-Pettersson, Katarina Pelin, Kristen J. Nowak
Published 2020-02-01

Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective

by Gerald F. Watts, David R. Sullivan, David L. Hare, Karam M. Kostner, Ari E. Horton, Damon A. Bell, Tom Brett, Ronald J. Trent, Nicola K. Poplawski, Andrew C. Martin, Shubha Srinivasan, Robert N. Justo, Clara K. Chow, Jing Pang, Zanfina Ademi, Justin J Ardill, Wendy Barnett, Timothy R Bates, Lawrence J Beilin, Warrick Bishop, J Andrew Black, Alex Brown, John R Burnett, Christina A Bursill, Alison Colley, Peter M Clifton, Elif I Ekinci, Gemma A Figtree, Brett H Forge, Jacquie Garton-Smith, Dorothy F Graham, Ian Hamilton-Craig, Christian R Hamilton-Craig, Clare Heal, Charlotte M Hespe, Amanda J Hooper, Laurence G Howes, Jodie Ingles, Edward D Janus, Nadarajah Kangaharan, Anthony C Keech, Andrew B Kirke, Leonard Kritharides, Campbell V Kyle, Paul Lacaze, Stephen CH Li, Stjepana Maticevic, Brendan M McQuillan, Sam Mirzaee, Trevor A Mori, Allison C Morton, David M Colquhoun, Joanna C Moullin, Paul J Nestel, Kristen J Nowak, Richard C O'Brien, Nicholas Pachter, Michael M Page, Peter J Psaltis, Jan Radford, Nicola J Reid, Elizabeth N Robertson, Jacqueline DM Ryan, Mitchell N Sarkies, Carl J Schultz, Russell S Scott, Christopher Semsarian, Leon A Simons, Catherine Spinks, Andrew M Tonkin, Frank van Bockxmeer, Kathryn E Waddell-Smith, Natalie C Ward, Harvey D White, Andrew M Wilson, Ingrid Winship, Ann Marie Woodward, Stephen J Nicholls, Peter Brett, Luke Elias, Wynand Malan, John Irvin, Kirsten Lambert, Annette Pedrotti
Published 2021-06-01