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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the... by Isabella S. Suleski, Robert Smith, Christina Vo, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Nigel G. Laing, Rhonda L. Taylor, Joshua S. Clayton

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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

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Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene by Joshua S. Clayton, Isabella Suleski, Christina Vo, Robert Smith, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

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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

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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

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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

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