A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations von 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, Felicity, Chopra, Maya, Gregersen, Nerine, Hayes, Ian, Rajagopalan, Sulekha, Tan, Tiong Yang, Stark, Zornitza, Savarirayan, Ravi, Yeung, Alison, Adès, Lesley, Gattas, Michael, Gibson, Kate, Gabbett, Michael, Amor, David John, Lattanzi, Wanda, Boyd, Simeon, Haan, Eric, Gianoutsos, Mark, Cox, Timothy Chilton, Buckley, Michael Francis, Roscioli, Tony

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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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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis von Ewans, Lisa J, Minoche, Andre E, Schofield, Deborah, Shrestha, Rupendra, Puttick, Clare, Zhu, Ying, Drew, Alexander, Gayevskiy, Velimir, Elakis, George, Walsh, Corrina, Adès, Lesley C, Colley, Alison, Ellaway, Carolyn, Evans, Carey-Anne, Freckmann, Mary-Louise, Goodwin, Linda, Hackett, Anna, Kamien, Benjamin, Kirk, Edwin P, Lipke, Michelle, Mowat, David, Palmer, Elizabeth, Rajagopalan, Sulekha, Ronan, Anne, Sachdev, Rani, Stevenson, William, Turner, Anne, Wilson, Meredith, Worgan, Lisa, Morel-Kopp, Marie-Christine, Field, Michael, Buckley, Michael F, Cowley, Mark J, Dinger, Marcel E, Roscioli, Tony

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Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency von Vavassori, Stefano, Chou, Janet, Faletti, Laura Eva, Haunerdinger, Veronika, Opitz, Lennart, Joset, Pascal, Fraser, Christopher J., Prader, Seraina, Gao, Xianfei, Schuch, Luise A., Wagner, Matias, Hoefele, Julia, Maccari, Maria Elena, Zhu, Ying, Elakis, George, Gabbett, Michael T., Forstner, Maria, Omran, Heymut, Kaiser, Thomas, Kessler, Christina, Olbrich, Heike, Frosk, Patrick, Almutairi, Abduarahman, Platt, Craig D., Elkins, Megan, Weeks, Sabrina, Rubin, Tamar, Planas, Raquel, Marchetti, Tommaso, Koovely, Danil, Klämbt, Verena, Soliman, Neveen A., von Hardenberg, Sandra, Klemann, Christian, Baumann, Ulrich, Lenz, Dominic, Klein-Franke, Andreas, Schwemmle, Martin, Huber, Michael, Sturm, Ekkehard, Hartleif, Steffen, Häffner, Karsten, Gimpel, Charlotte, Brotschi, Barbara, Laube, Guido, Güngör, Tayfun, Buckley, Michael F., Kottke, Raimund, Staufner, Christian, Hildebrandt, Friedhelm, Reu-Hofer, Simone, Moll, Solange, Weber, Achim, Kaur, Hundeep, Ehl, Stephan, Hiller, Sebastian, Geha, Raif, Roscioli, Tony, Griese, Matthias, Pachlopnik Schmid, Jana

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Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome” von Kirk, Edwin P., Barlow-Stewart, Kristine, Selvanathan, Arthavan, Josephi-Taylor, Sarah, Worgan, Lisa, Rajagopalan, Sulekha, Cowley, Mark J., Gayevskiy, Velimir, Bittles, Alan, Burnett, Leslie, Elakis, George, Lo, William, Buckley, Michael, Colley, Alison, Roscioli, Tony

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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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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort von Dias, Kerith-Rae, Shrestha, Rupendra, Schofield, Deborah, Evans, Carey-Anne, O’Heir, Emily, Zhu, Ying, Zhang, Futao, Standen, Krystle, Weisburd, Ben, Stenton, Sarah L., Sanchis-Juan, Alba, Brand, Harrison, Talkowski, Michael E., Ma, Alan, Ghedia, Sondy, Wilson, Meredith, Sandaradura, Sarah A., Smith, Janine, Kamien, Benjamin, Turner, Anne, Bakshi, Madhura, Adès, Lesley C., Mowat, David, Regan, Matthew, McGillivray, George, Savarirayan, Ravi, White, Susan M., Tan, Tiong Yang, Stark, Zornitza, Brown, Natasha J., Pérez-Jurado, Luis A., Krzesinski, Emma, Hunter, Matthew F., Akesson, Lauren, Fennell, Andrew Paul, Yeung, Alison, Boughtwood, Tiffany, Ewans, Lisa J., Kerkhof, Jennifer, Lucas, Christopher, Carey, Louise, French, Hugh, Rapadas, Melissa, Stevanovski, Igor, Deveson, Ira W., Cliffe, Corrina, Elakis, George, Kirk, Edwin P., Dudding-Byth, Tracy, Fletcher, Janice, Walsh, Rebecca, Corbett, Mark A., Kroes, Thessa, Gecz, Jozef, Meldrum, Cliff, Cliffe, Simon, Wall, Meg, Lunke, Sebastian, North, Kathryn, Amor, David J., Field, Michael, Sadikovic, Bekim, Buckley, Michael F., O’Donnell-Luria, Anne, Roscioli, Tony

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A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations von 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, Felicity, Chopra, Maya, Gregersen, Nerine, Hayes, Ian, Rajagopalan, Sulekha, Tan, Tiong Yang, Stark, Zornitza, Savarirayan, Ravi, Yeung, Alison, Adès, Lesley, Gattas, Michael, Gibson, Kate, Gabbett, Michael, Amor, David John, Lattanzi, Wanda, Boyd, Simeon, Haan, Eric, Gianoutsos, Mark, Cox, Timothy Chilton, Buckley, Michael Francis, Roscioli, Tony

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Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis von Anderson, Peter J, Cox, Timothy C, Roscioli, Tony, Elakis, George, Smithers, Lisa, David, David J, Powell, Barry

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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness von 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, Jiang, Dias, Kerith‐Rae, Buckley, Michael, Dinger, Marcel E., Cowley, Mark J., Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Sachdev, Rani K.

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Clinically Responsive Genomic Analysis Pipelines Elements to Improve Detection Rate and Efficiency von Sundercombe, Samantha Leigh, Berbic, Marina, Evans, Carey-Anne, Cliffe, Corrina, Elakis, George, Temple, Suzanna E. L., Selvanathan, Arthavan, Ewans, Lisa, Quayum, Nila, Nixon, Cheng-Yee, Dias, Kerith-Rae, Lang, Sarah, Richards, Anna, Goh, Shuxiang, Wilson, Meredith, Mowat, David, Sachdev, Rani, Sandaradura, Sarah, Walsh, Maie, Farrar, Michelle A., Walsh, Rebecca, Fletcher, Janice, Kirk, Edwin P., Teunisse, Guus M., Scho, Deborah, Buckley, Michael Francis, Zhu, Ying, Roscioli, Tony

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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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Indications and outcomes of rapid turn around time whole exome sequencing studies von Buckley, Michael F., Elakis, George, Lang, Sarah, Richards, Anna, Cliffe, Corrina, Chan, Cheng-Yee, Kirk, Edwin P., Zhu, Ying, Roscioli, Tony

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Clinically Responsive Genomic Analysis Pipelines von Sundercombe, Samantha Leigh, Berbic, Marina, Evans, Carey-Anne, Cliffe, Corrina, Elakis, George, Temple, Suzanna E.L., Selvanathan, Arthavan, Ewans, Lisa, Quayum, Nila, Nixon, Cheng-Yee, Dias, Kerith-Rae, Lang, Sarah, Richards, Anna, Goh, Shuxiang, Wilson, Meredith, Mowat, David, Sachdev, Rani, Sandaradura, Sarah, Walsh, Maie, Farrar, Michelle A., Walsh, Rebecca, Fletcher, Janice, Kirk, Edwin P., Teunisse, Guus M., Schofield, Deborah, Buckley, Michael Francis, Zhu, Ying, Roscioli, Tony

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Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy von Palmer, Elizabeth E, Jarrett, Kelsey E, Sachdev, Rani K, Al Zahrani, Fatema, Hashem, Mais Omar, Ibrahim, Niema, Sampaio, Hugo, Kandula, Tejaswi, Macintosh, Rebecca, Gupta, Rajat, Conlon, Donna M, Billheimer, Jeffrey T, Rader, Daniel J, Funato, Kouichi, Walkey, Christopher J, Lee, Chang Seok, Loo, Christine, Brammah, Susan, Elakis, George, Zhu, Ying, Buckley, Michael, Kirk, Edwin P, Bye, Ann, Alkuraya, Fowzan S, Roscioli, Tony, Lagor, William R

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Validation and implementation of the amplidex fragile X test in an Australian diagnostic laboratory von Galea, Melanie A., Elakis, George, Caramins, Melody C.

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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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Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation von Zankl, Andreas, Elakis, George, Susman, Rachel D., Inglis, Garry, Gardener, Glenn, Buckley, Michael F., Roscioli, Tony

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Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: An Australian multicenter study von James, Paul A., Culling, Bronwyn, Mullan, Glenda, Jenkins, Mark, Elakis, George, Turner, Anne M., Mowat, David M., Wilson, Meredith, Anderson, Peter, Savarirayan, Ravi, Cliffe, Simon T., Caramins, Melody, Buckley, Michael F., Tucker, Kathy, Roscioli, Tony

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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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