Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
Tan, Tiong Yang, Dillon, Oliver James, Stark, Zornitza, Schofield, Deborah, Alam, Khurshid, Shrestha, Rupendra, Chong, Belinda, Phelan, Dean, Brett, Gemma R, Creed, Emma, Jarmolowicz, Anna, Yap, Patrick, Walsh, Maie, Downie, Lilian, Amor, David J, Savarirayan, Ravi, McGillivray, George, Yeung, Alison, Peters, Heidi, Robertson, Susan J, Robinson, Aaron J, Macciocca, Ivan, Sadedin, Simon, Bell, Katrina, Oshlack, Alicia, Georgeson, Peter, Thorne, Natalie, Gaff, Clara, White, Susan M
Published in JAMA pediatrics (01.09.2017)
Published in JAMA pediatrics (01.09.2017)
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Journal Article
Facile removal of stabilizer-ligands from supported gold nanoparticles
Lopez-Sanchez, Jose A., Dimitratos, Nikolaos, Hammond, Ceri, Brett, Gemma L., Kesavan, Lokesh, White, Saul, Miedziak, Peter, Tiruvalam, Ramchandra, Jenkins, Robert L., Carley, Albert F., Knight, David, Kiely, Christopher J., Hutchings, Graham J.
Published in Nature chemistry (05.06.2011)
Published in Nature chemistry (05.06.2011)
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Journal Article
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, Barnett, Christopher P, Pinner, Jason, Sandaradura, Sarah A, Buckley, Michael F, Krzesinski, Emma I, de Silva, Michelle G, Brett, Gemma R, Boggs, Kirsten, Mowat, David, Kirk, Edwin P, Adès, Lesley C, Akesson, Lauren S, Amor, David J, Ayres, Samantha, Baxendale, Anne, Borrie, Sarah, Bray, Alessandra, Brown, Natasha J, Chan, Cheng Yee, Chong, Belinda, Cliffe, Corrina, Delatycki, Martin B, Edwards, Matthew, Elakis, George, Fahey, Michael C, Fennell, Andrew, Fowles, Lindsay, Gallacher, Lyndon, Higgins, Megan, Howell, Katherine B, Hunt, Lauren, Hunter, Matthew F, Jones, Kristi J, King, Sarah, Kumble, Smitha, Lang, Sarah, Le Moing, Maelle, Ma, Alan, Phelan, Dean, Quinn, Michael C J, Richards, Anna, Richmond, Christopher M, Riseley, Jessica, Rodgers, Jonathan, Sachdev, Rani, Sadedin, Simon, Schlapbach, Luregn J, Smith, Janine, Springer, Amanda, Tan, Natalie B, Tan, Tiong Y, Temple, Suzanna L, Theda, Christiane, Vasudevan, Anand, White, Susan M, Yeung, Alison, Zhu, Ying, Martyn, Melissa, Best, Stephanie, Roscioli, Tony, Christodoulou, John, Stark, Zornitza
Published in JAMA : the journal of the American Medical Association (23.06.2020)
Published in JAMA : the journal of the American Medical Association (23.06.2020)
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Journal Article
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Stark, Zornitza, Tan, Tiong Y., Chong, Belinda, Brett, Gemma R., Yap, Patrick, Walsh, Maie, Yeung, Alison, Peters, Heidi, Mordaunt, Dylan, Cowie, Shannon, Amor, David J., Savarirayan, Ravi, McGillivray, George, Downie, Lilian, Ekert, Paul G., Theda, Christiane, James, Paul A., Yaplito-Lee, Joy, Ryan, Monique M., Leventer, Richard J., Creed, Emma, Macciocca, Ivan, Bell, Katrina M., Oshlack, Alicia, Sadedin, Simon, Georgeson, Peter, Anderson, Charlotte, Thorne, Natalie, Gaff, Clara, White, Susan M.
Published in Genetics in medicine (01.11.2016)
Published in Genetics in medicine (01.11.2016)
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Journal Article
Integrated multi-omics for rapid rare disease diagnosis on a national scale
Lunke, Sebastian, Bouffler, Sophie E., Patel, Chirag V., Sandaradura, Sarah A., Wilson, Meredith, Pinner, Jason, Hunter, Matthew F., Barnett, Christopher P., Wallis, Mathew, Kamien, Benjamin, Tan, Tiong Y., Freckmann, Mary-Louise, Chong, Belinda, Phelan, Dean, Francis, David, Kassahn, Karin S., Ha, Thuong, Gao, Song, Arts, Peer, Jackson, Matilda R., Scott, Hamish S., Eggers, Stefanie, Rowley, Simone, Boggs, Kirsten, Rakonjac, Ana, Brett, Gemma R., de Silva, Michelle G., Springer, Amanda, Ward, Michelle, Stallard, Kirsty, Simons, Cas, Conway, Thomas, Halman, Andreas, Van Bergen, Nicole J., Sikora, Tim, Semcesen, Liana N., Stroud, David A., Compton, Alison G., Thorburn, David R., Bell, Katrina M., Sadedin, Simon, North, Kathryn N., Christodoulou, John, Stark, Zornitza
Published in Nature medicine (01.07.2023)
Published in Nature medicine (01.07.2023)
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Journal Article
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
Stark, Zornitza, Lunke, Sebastian, Brett, Gemma R., Tan, Natalie B., Stapleton, Rachel, Kumble, Smitha, Yeung, Alison, Phelan, Dean G., Chong, Belinda, Fanjul-Fernandez, Miriam, Marum, Justine E., Hunter, Matthew, Jarmolowicz, Anna, Prawer, Yael, Riseley, Jessica R., Regan, Matthew, Elliott, Justine, Martyn, Melissa, Best, Stephanie, Tan, Tiong Y., Gaff, Clara L., White, Susan M.
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
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Journal Article
Au–Pd Nanoparticles Dispersed on Composite Titania/Graphene Oxide-Supports as a Highly Active Oxidation Catalyst
Wang, Jiacheng, Kondrat, Simon A, Wang, Yingyu, Brett, Gemma L, Giles, Cicely, Bartley, Jonathan K, Lu, Li, Liu, Qian, Kiely, Christopher J, Hutchings, Graham J
Published in ACS catalysis (05.06.2015)
Published in ACS catalysis (05.06.2015)
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Journal Article
‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning
Bowman-Smart, Hilary, Vears, Danya F, Brett, Gemma R, Martyn, Melissa, Stark, Zornitza, Gyngell, Christopher
Published in European journal of human genetics : EJHG (01.09.2022)
Published in European journal of human genetics : EJHG (01.09.2022)
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Journal Article
Selective Oxidation of Glycerol by Highly Active Bimetallic Catalysts at Ambient Temperature under Base-Free Conditions
Brett, Gemma L., He, Qian, Hammond, Ceri, Miedziak, Peter J., Dimitratos, Nikolaos, Sankar, Meenakshisundaram, Herzing, Andrew A., Conte, Marco, Lopez-Sanchez, Jose Antonio, Kiely, Christopher J., Knight, David W., Taylor, Stuart H., Hutchings, Graham J.
Published in Angewandte Chemie International Edition (17.10.2011)
Published in Angewandte Chemie International Edition (17.10.2011)
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Journal Article
The controlled catalytic oxidation of furfural to furoic acid using AuPd/Mg(OH) 2
Douthwaite, Mark, Huang, Xiaoyang, Iqbal, Sarwat, Miedziak, Peter J., Brett, Gemma L., Kondrat, Simon A., Edwards, Jennifer K., Sankar, Meenakshisundaram, Knight, David W., Bethell, Donald, Hutchings, Graham J.
Published in Catalysis science & technology (2017)
Published in Catalysis science & technology (2017)
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Journal Article
Pd-Ru/TiO2 catalyst - an active and selective catalyst for furfural hydrogenation
Aldosari, Obaid F, Iqbal, Sarwat, Miedziak, Peter J, Brett, Gemma L, Jones, Daniel R, Liu, Xi, Edwards, Jennifer K, Morgan, David J, Knight, David K, Hutchings, Graham J
Year of Publication 01.01.2016
Year of Publication 01.01.2016
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Journal Article
Au-Pd nanoalloys supported on Mg-Al mixed metal oxides as a multifunctional catalyst for solvent-free oxidation of benzyl alcohol
Feng, Junting, Ma, Chao, Miedziak, Peter J, Edwards, Jennifer K, Brett, Gemma L, Li, Dianqing, Du, Yiyun, Morgan, David J, Hutchings, Graham J
Published in Dalton transactions : an international journal of inorganic chemistry (28.10.2013)
Published in Dalton transactions : an international journal of inorganic chemistry (28.10.2013)
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Journal Article
The Role of Mg(OH)2 in the So‐Called “Base‐Free” Oxidation of Glycerol with AuPd Catalysts
Fu, Jile, He, Qian, Miedziak, Peter J., Brett, Gemma L., Huang, Xiaoyang, Pattisson, Samuel, Douthwaite, Mark, Hutchings, Graham J.
Published in Chemistry : a European journal (16.02.2018)
Published in Chemistry : a European journal (16.02.2018)
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Journal Article
Aerobic oxidations in flow: opportunities for the fine chemicals and pharmaceuticals industries
Gavriilidis, Asterios, Constantinou, Achilleas, Hellgardt, Klaus, Hii, King Kuok (Mimi), Hutchings, Graham J, Brett, Gemma L, Kuhn, Simon, Marsden, Stephen P
Published in Reaction chemistry & engineering (01.01.2016)
Published in Reaction chemistry & engineering (01.01.2016)
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Journal Article
A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability
McCorkell, Giulia, Nisselle, Amy, Halton, Donna, Bouffler, Sophie E., Patel, Chirag, Christodoulou, John, Maher, Fran, McClaren, Belinda, Brett, Gemma R., Sandaradura, Sarah, Boggs, Kirsten, de Silva, Michelle G., Lynch, Fiona, Macciocca, Ivan, Lynch, Elly, Martyn, Melissa, Best, Stephanie, Stark, Zornitza, Gaff, Clara L.
Published in Genetics in medicine (01.10.2024)
Published in Genetics in medicine (01.10.2024)
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Journal Article
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children
Brett, Gemma R., Martyn, Melissa, Lynch, Fiona, de Silva, Michelle G., Ayres, Samantha, Gallacher, Lyndon, Boggs, Kirsten, Baxendale, Anne, Schenscher, Sarah, King-Smith, Sarah, Fowles, Lindsay, Springer, Amanda, Lunke, Sebastian, Vasudevan, Anand, Krzesinski, Emma, Pinner, Jason, Sandaradura, Sarah A., Barnett, Christopher, Patel, Chirag, Wilson, Meredith, Stark, Zornitza
Published in Genetics in medicine (01.12.2020)
Published in Genetics in medicine (01.12.2020)
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Journal Article
Base-Free Oxidation of Glycerol Using Titania-Supported Trimetallic Au-Pd-Pt Nanoparticles
Kondrat, Simon A., Miedziak, Peter J., Douthwaite, Mark, Brett, Gemma L., Davies, Thomas E., Morgan, David J., Edwards, Jennifer K., Knight, David W., Kiely, Christopher J., Taylor, Stuart H., Hutchings, Graham J.
Published in ChemSusChem (01.05.2014)
Published in ChemSusChem (01.05.2014)
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Journal Article
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10
Helman, Guy, Compton, Alison G., Hock, Daniella H., Walkiewicz, Marzena, Brett, Gemma R., Pais, Lynn, Tan, Tiong Y., De Paoli‐Iseppi, Ricardo, Clark, Michael B., Christodoulou, John, White, Susan M., Thorburn, David R., Stroud, David A., Stark, Zornitza, Simons, Cas
Published in Human mutation (01.01.2021)
Published in Human mutation (01.01.2021)
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Journal Article
Satellite altimetry detection of ice-shelf-influenced fast ice
Brett, Gemma M, Price, Daniel, Rack, Wolfgang, Langhorne, Patricia J
Published in The cryosphere (26.08.2021)
Published in The cryosphere (26.08.2021)
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