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

Autor: 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

Publikováno v: American Journal of Preventive Cardiology, Vol 6, Iss , Pp 100151- (2021)

Summary: Introduction: Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease, with significant potential for positive impact on public health and healthcare savings. New clinical practic

Externí odkaz: https://doaj.org/article/dc3b0f2fd062444885e764503620da67

l-asparaginase-induced biochemical toxicities in young adults with acute lymphoblastic leukaemia and T-lymphoblastic lymphoma

Autor: Amanda J. Hooper, John R. Burnett, Julian Cooney, Jessica M Heenan

Publikováno v: Pathology. 53:924-926

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dfac4dbe44442f9c50aad6c932fe330e
https://doi.org/10.1016/j.pathol.2021.02.015

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Autor: Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger, Kenneth D. Doig, Evelyn Douglas, Andrew Dubowsky, Melissa Ellul, Andrew Fellowes, Katrina Fisk, Cristina Fortuno, Kathryn Friend, Renee L. Gallagher, Song Gao, Emma Hackett, Johanna Hadler, Michael Hipwell, Gladys Ho, Georgina Hollway, Amanda J. Hooper, Karin S. Kassahn, Rahul Krishnaraj, Chiyan Lau, Huong Le, Huei San Leong, Ben Lundie, Sebastian Lunke, Anthony Marty, Mary McPhillips, Lan T. Nguyen, Katia Nones, Kristen Palmer, John V. Pearson, Michael C.J. Quinn, Lesley H. Rawlings, Simon Sadedin, Louisa Sanchez, Andreas W. Schreiber, Emanouil Sigalas, Aygul Simsek, Julien Soubrier, Zornitza Stark, Bryony A. Thompson, James U, Cassandra G. Vakulin, Amanda V. Wells, Cheryl A. Wise, Rick Woods, Andrew Ziolkowski, Marie-Jo Brion, Hamish S. Scott, Natalie P. Thorne, Amanda B. Spurdle, Lauren Akesson, Richard Allcock, Katie Ashton, Damon A. Bell, Anna Brown, Michael Buckley, John R. Burnett, Linda Burrows, Alicia Byrne, Eva Chan, Corrina Cliffe, Roderick Clifton-Bligh, Susan Dooley, Miriam Fanjul Fernandez, Elizabeth Farnsworth, Thuong Ha, Denae Henry, Duncan Holds, Katherine Holman, Matilda Jackson, Sinlay Kang, Catherine Luxford, Sam McManus, Rachael Mehrtens, Cliff Meldrum, David Mossman, Sarah-Jane Pantaleo, Dean Phelan, Electra Pontikinas, Anja Ravine, Tony Roscioli, Rodney Scott, Keryn Simons, Oliver Vanwageningen

Publikováno v: Am J Hum Genet

Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3847493e457643efaf7244e001b19ac0
https://pubmed.ncbi.nlm.nih.gov/36332611

Publication metrics: it really is all about the numbers

Autor: Brett Delahunt, Belinda Neill, John R. Burnett, Richard A. Scolyer

Publikováno v: Pathology. 53:561-563

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::735529cf9b7ad1cddec70d9aace3aa83
https://doi.org/10.1016/j.pathol.2021.03.001

Disorders of Lipoprotein Metabolism

Autor: Amanda J. Hooper, Robert A. Hegele, John R. Burnett

Publikováno v: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783030677268

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fe9e06328e3dcdeb943eea0cf6bfef26
https://doi.org/10.1007/978-3-030-67727-5_53