Rapid Genomic Testing in Intensive Care: Health Professionals’ Perspectives on Ethical Challenges by Katie Arkell, Christopher Gyngell, Zornitza Stark, Danya F. Vears

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Determining the utility of diagnostic genomics: a conceptual framework by Andrew Mallett, Zornitza Stark, Zoe Fehlberg, Stephanie Best, Ilias Goranitis

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The application of long-read sequencing in clinical settings by Josephine B. Oehler, Helen Wright, Zornitza Stark, Andrew J. Mallett, Ulf Schmitz

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Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia by Kim Dalziel, Zornitza Stark, Ilias Goranitis, Dylan A Mordaunt, Francisco Santos Gonzalez

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Evolution of virtual gene panels over time and implications for genomic data re-analysis by Alan J. Robertson, Khoa Tran, Chirag Patel, Clair Sullivan, Zornitza Stark, Nicola Waddell

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Intensive Care Clinicians’ Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants by Sachini Poogoda, Fiona Lynch, Zornitza Stark, Dominic Wilkinson, Julian Savulescu, Danya Vears, Christopher Gyngell

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Eliciting parental preferences and values for the return of additional findings from genomic sequencing by Ilias Goranitis, Yan Meng, Melissa Martyn, Stephanie Best, Sophie Bouffler, Yvonne Bombard, Clara Gaff, Zornitza Stark

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Clinically significant changes in genes and variants associated with epilepsy over time: implications for re-analysis by Alan J. Robertson, Khoa A. Tran, Carmen Bennett, Clair Sullivan, Zornitza Stark, Lata Vadlamudi, Nicola Waddell

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The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology by Jacqueline Soraru, Sadia Jahan, Sadia Jahan, Catherine Quinlan, Catherine Quinlan, Catherine Quinlan, Catherine Quinlan, Cas Simons, Cas Simons, Louise Wardrop, Louise Wardrop, Rosie O’Shea, Rosie O’Shea, Alasdair Wood, Alasdair Wood, Amali Mallawaarachchi, Amali Mallawaarachchi, Amali Mallawaarachchi, Chirag Patel, Chirag Patel, Zornitza Stark, Zornitza Stark, Zornitza Stark, Andrew John Mallett, Andrew John Mallett, Andrew John Mallett, Andrew John Mallett, Andrew John Mallett

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Theory Designed Strategies to Support Implementation of Genomics in Nephrology by Arushi Kansal, Catherine Quinlan, Zornitza Stark, Peter G. Kerr, Andrew J. Mallett, Chandni Lakshmanan, Stephanie Best, Kushani Jayasinghe

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Meeting report of the 2017 KidGen Renal Genetics Symposium by Kushani Jayasinghe, Cathy Quinlan, Zornitza Stark, Chirag Patel, Matthew G. Sampson, Moin Saleem, Andrew J. Mallett, on behalf of the KidGen Collaborative

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Co-design, implementation, and evaluation of plain language genomic test reports by Gemma R. Brett, Aisha Ward, Sophie E. Bouffler, Elizabeth E. Palmer, Kirsten Boggs, Fiona Lynch, Amanda Springer, Amy Nisselle, Zornitza Stark

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Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm by Kushani Jayasinghe, Susan M. White, Peter G. Kerr, Duncan MacGregor, Zornitza Stark, Ella Wilkins, Cas Simons, Andrew Mallett, Catherine Quinlan

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Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study by Rosie O’Shea, Alasdair Wood, Chirag Patel, Hugh J. McCarthy, Amali Mallawaarachchi, Catherine Quinlan, Cas Simons, Zornitza Stark, Andrew J. Mallett

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Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation by Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F. Vears

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Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency by Leisa Rebecca Watson, Charlotte A. Slade, Samar Ojaimi, Sara Barnes, Pasquale Fedele, Prudence Smith, Justine Marum, Sebastian Lunke, Zornitza Stark, Matthew F. Hunter, Vanessa L. Bryant, Michael Sze Yuan Low

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Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies by Lauren S. Akesson, Rocio Rius, Natasha J. Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon, Charmaine Chai, Esmeralda Bordador, Yiran Guo, Hakon Hakonarson, Alison G. Compton, David R. Thorburn, Sumudu Amarasekera, Justine Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou

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The role of exome sequencing in childhood interstitial or diffuse lung disease by Suzanna E. L. Temple, Gladys Ho, Bruce Bennetts, Kirsten Boggs, Nada Vidic, David Mowat, John Christodoulou, André Schultz, Thet Gayagay, Tony Roscioli, Ying Zhu, Sebastian Lunke, David Armstrong, Joanne Harrison, Nitin Kapur, Tim McDonald, Hiran Selvadurai, Andrew Tai, Zornitza Stark, Adam Jaffe

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Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol by Stephanie Best, Melissa Martyn, Ling Lee, Zornitza Stark, Ilias Goranitis, Marc Clausen, Yvonne Bombard, Martin Delatycki, Lilian Downie, Sebastian Lunke, Elly Lynch, Belinda Chong, Lisette Curnow, Fiona Lynch, Sophie E Bouffler, Ivan Macciocca, Giulia McCorkell, Justine E Marum, Danya F Vears, Clara L Gaff

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P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study by Nicole Si Yan Liang, Gregory Costain, Alissa D'Gama, Amy McTague, Katherine Howell, Vann Chau, Sarah Mulhern, Annapurna Poduri, Ingrid Scheffer, Beth Sheidley, Meredith Curtis, Edward Higginbotham, Tayyaba Khan, Lyndsey McRae, Kimberly Wiltrout, Robin Hayeems, Puneet Jain, Sebastian Lunke, Christian Marshall, Lyn Chitty, Shira Rockowitz, Zornitza Stark, Susan White

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