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Author/Creator Elakis, George

1. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. (September 2018)

Authors:
Lee, Eric; Le, Trang; Zhu, Ying; Elakis, George; Turner, Anne; Lo, William; Venselaar, Hanka; Verrenkamp, Carol-Ann; Snow, Nicole; Mowat, David; Kirk, Edwin Philip; Sachdev, Rani; Smith, Janine; Brown, Natasha Jane; Wallis, Mathew; Barnett, Chris; McKenzie, Fiona; Freckmann, Mary-Louise; Collins,...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 9(2018)
Page Start:
1061
Record Type:
Journal Article
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2. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. Issue 11 (November 2020)

Authors:
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.; ...
Journal:
Obstetrical & gynecological survey
Issue:
Volume 75:Issue 11(2020)
Page Start:
Record Type:
Journal Article
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3. Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience. Issue 8 (7th June 2019)

Authors:
Ma, Alan; Gurnasinghani, Sunita; Kirk, Edwin P.; McClenaghan, Conor; Singh, Gautam K.; Grange, Dorothy K.; Pandit, Chetan; Zhu, Yung; Roscioli, Tony; Elakis, George; Buckley, Michael; Mehta, Bhavesh; Roberts, Philip; Mervis, Jonathan; Biggin, Andrew; Nichols, Colin G.
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 8(2019)
Page Start:
1585
Record Type:
Journal Article
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4. Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. Issue 2 (4th January 2018)

Authors:
Palmer, Elizabeth E.; Schofield, Deborah; Shrestha, Rupendra; Kandula, Tejaswi; Macintosh, Rebecca; Lawson, John A.; Andrews, Ian; Sampaio, Hugo; Johnson, Alexandra M.; Farrar, Michelle A.; Cardamone, Michael; Mowat, David; Elakis, George; Lo, William; Zhu, Ying; Ying, Kevin; Morris, Paula; Tao, ...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 6:Issue 2(2018)
Page Start:
186
Record Type:
Journal Article
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5. Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. Issue 6 (26th January 2007)

Authors:
Taylor, Peter J; Maroulis, Sarah; Mullan, Glenda L; Pedersen, Robyn L; Baumli, Aurora; Elakis, George; Piras, Sara; Walsh, Corrina; Prósper-Gutiérrez, Benito; De La Puente-Alonso, Fernando; Bell, Christopher G; Mowat, David R; Johnston, Heather M; Buckley, Michael F
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 6(2007)
Page Start:
368
Record Type:
Journal Article
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