Thermodynamics Analysis for the Zinc Ferrite Reduction by Hydrogen von Polsilapa, Sureerat, Sadedin, David R., Wangyao, Panyawat

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Conservation of momentum and recoil in the railgun von Sadedin, D.R.

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Effect of tetrodotoxin on the inward ionic current of the guinea pig atrium von FREEMAN, SHIRLEY E, LEAKE, BRIAN, SADEDIN, DAVID R, GRAY, PETER J

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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, 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

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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders von 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.

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Integrated multi-omics for rapid rare disease diagnosis on a national scale von 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

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Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus von Frazier, Ann E., Compton, Alison G., Kishita, Yoshihito, Hock, Daniella H., Welch, AnneMarie E., Amarasekera, Sumudu S.C., Rius, Rocio, Formosa, Luke E., Imai-Okazaki, Atsuko, Francis, David, Wang, Min, Lake, Nicole J., Tregoning, Simone, Jabbari, Jafar S., Lucattini, Alexis, Nitta, Kazuhiro R., Ohtake, Akira, Murayama, Kei, Amor, David J., McGillivray, George, Wong, Flora Y., van der Knaap, Marjo S., Vermeulen, R. Jeroen, Wiltshire, Esko J., Fletcher, Janice M., Lewis, Barry, Baynam, Gareth, Ellaway, Carolyn, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Freckmann, Mary-Louise, Arbuckle, Susan, Rodriguez, Michael, Taft, Ryan J., Sadedin, Simon, Cowley, Mark J., Minoche, André E., Calvo, Sarah E., Mootha, Vamsi K., Ryan, Michael T., Okazaki, Yasushi, Stroud, David A., Simons, Cas, Christodoulou, John, Thorburn, David R.

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

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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome von Costain, Gregory, Callewaert, Bert, Gabriel, Heinz, Tan, Tiong Y., Walker, Susan, Christodoulou, John, Lazar, Tamas, Menten, Björn, Orkin, Julia, Sadedin, Simon, Snell, Meaghan, Vanlander, Arnaud, Vergult, Sarah, White, Susan M., Scherer, Stephen W., Hayeems, Robin Z., Blaser, Susan, Wodak, Shoshana J., Chitayat, David, Marshall, Christian R., Meyn, M. Stephen

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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome von Costain, Gregory, Callewaert, Bert, Gabriel, Heinz, Tan, Tiong Y., Walker, Susan, Christodoulou, John, Lazar, Tamas, Menten, Björn, Orkin, Julia, Sadedin, Simon, Snell, Meaghan, Vanlander, Arnaud, Vergult, Sarah, White, Susan M., Scherer, Stephen W., Hayeems, Robin Z., Blaser, Susan, Wodak, Shoshana J., Chitayat, David, Marshall, Christian R., Meyn, M. Stephen

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WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase von Waddell, Leigh B., Bryen, Samantha J., Cummings, Beryl B., Bournazos, Adam, Evesson, Frances J., Joshi, Himanshu, Marshall, Jamie L., Tukiainen, Taru, Valkanas, Elise, Weisburd, Ben, Sadedin, Simon, Davis, Mark R., Faiz, Fathimath, Gooding, Rebecca, Sandaradura, Sarah A., O'Grady, Gina L., Tchan, Michel C., Mowat, David R., Oates, Emily C., Farrar, Michelle A., Sampaio, Hugo, Ma, Alan, Neas, Katherine, Wang, Min-Xia, Charlton, Amanda, Chan, Charles, Kenwright, Diane N., Graf, Nicole, Arbuckle, Susan, Clarke, Nigel F., MacArthur, Daniel G., Jones, Kristi J., Lek, Monkol, Cooper, Sandra T.

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Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants von Rius, Rocio, Van Bergen, Nicole J, Compton, Alison G, Riley, Lisa G, Kava, Maina P, Balasubramaniam, Shanti, Amor, David J, Fanjul-Fernandez, Miriam, Cowley, Mark J, Fahey, Michael C, Koenig, Mary K, Enns, Gregory M, Sadedin, Simon, Wilson, Meredith J, Tan, Tiong Y, Thorburn, David R, Christodoulou, John

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Disorders of sex development : insights from targeted gene sequencing of a large international patient cohort von Eggers, Stefanie, Sadedin, Simon, van den Bergen, Jocelyn A, Robevska, Gorjana, Ohnesorg, Thomas, Hewitt, Jacqueline, Lambeth, Luke, Bouty, Aurore, Knarston, Ingrid M, Tan, Tiong Yang, Cameron, Fergus, Werther, George, Hutson, John, O’Connell, Michele, Grover, Sonia R, Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, Webb, Nathalie, Hunter, Matthew F, Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F, Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Crock, Patricia, Cowell, Chris, Leong, Gary M, Ono, Makato, Lafferty, Antony R, Huynh, Tony, Visser, Uma, Choong, Catherine S, McKenzie, Fiona, Pachter, Nicholas, Thompson, Elizabeth M, Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin J, Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard I, Krausz, Csilla, van Ravenswaaij-Arts, Conny M. A, Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Juniarto, Achmad Zulfa, Khadilkar, Vaman, Khadilkar, Anuradha, Bhatia, Vijayalakshmi, Dũng, Vũ Chí, Atta, Irum, Raza, Jamal, thi Diem Chi, Nguyen, Hao, Tran Kiem, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Oshlack, Alicia, Ayers, Katie L, Sinclair, Andrew H

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