Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy von 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

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The validation of a diagnostic exome sequencing service for the investigation of monogenic disorders von Cliffe, C., Elakis, G., Zhu, Y., Mullan, G., Mead, R., Kirk, E., Lau, C., Buckley, M.F., Roscioli, T.

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Early menopause in a family carrying a fragile X premutation von DRISCOLL, G., CLARK, J., ELAKIS, G., TURNER, G.

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A genomewide linkage study of preeclampsia/eclampsia reveals evidence for a candidate region on 4q von HARRISON, G. A, HUMPHREY, K. E, BRENNECKE, S. P, COOPER, D. W, JONES, N, BADENHOP, R, GUO, G, ELAKIS, G, KAYE, J. A, TURNER, R. J, GREHAN, M, WILTON, A. N

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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness von Palmer, EE, Schofield, D, Shrestha, R, Kandula, T, Macintosh, R, Lawson, JA, Andrews, I, Sampaio, H, Johnson, AM, Farrar, MA, Cardamone, M, Mowat, D, Elakis, G, Lo, W, Zhu, Y, Ying, K, Morris, P, Tao, J, Dias, KR, Buckley, M, Dinger, ME, Cowley, MJ, Roscioli, T, Kirk, EP, Bye, A, Sachdev, RK, Palmer, Elizabeth

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Early menopause in a family carrying a fragile X premutation von DRISCOLL, G., CLARK, J., ELAKIS, G., TURNER, G.

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Early menopause in a family carrying a fragile X premutation von Driscoll, G, Clark, J, Elakis, G, Turner, G

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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System von 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., Ades, 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

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Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience von 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.

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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System von Australian Genomics Health Alliance Acute Care Flagship, 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, Schlapbach, Luregn J

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