Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy von Richmond, Christopher M., James, Paul A., Pantaleo, Sarah-Jane, Chong, Belinda, Lunke, Sebastian, Tan, Tiong Y., Macciocca, Ivan

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Delineating the phenotype of RNU4ATAC‐related spliceosomopathy von Tabib, Amanda, Richmond, Christopher M., McGaughran, Julie

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Delineating the CCDC22‐related Ritscher–Schinzel syndrome phenotype in the original family von Rodgers, Jonathan, Richmond, Christopher M., McGaughran, Julie

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‘Propped and prone’ positioning reduces respiratory events in spontaneously breathing preterm infants: A randomised triple crossover study von Richmond, Christopher M, Ring, Fabian, Richmond, Lacey, Rossouw, Erika, Ballard, Emma, Birch, Pita

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Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8 von Richmond, Christopher M., Leventer, Richard, Ryan, Monique M., Delatycki, Martin B.

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Clinical overlap of PHACE and LUMBAR syndromes von Davenport, Rachael, Su, John C., Nathalie, Janice, Richmond, Christopher M., Yang Tan, Tiong, Robertson, Susan J.

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Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing von Akesson, Lauren S, Eggers, Stefanie, Love, Clare J, Chong, Belinda, Krzesinski, Emma I, Brown, Natasha J, Tan, Tiong Y, Richmond, Christopher M, Thorburn, David R, Christodoulou, John, Hunter, Matthew F, Lunke, Sebastian, Stark, Zornitza

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JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome von Verberne, Eline A., Goh, Shuxiang, England, Jade, van Ginkel, Manon, Rafael-Croes, Louise, Maas, Saskia, Polstra, Abeltje, Zarate, Yuri A., Bosanko, Katherine A., Pechter, Kieran B., Bedoukian, Emma, Izumi, Kosuke, Chaudhry, Ayeshah, Robin, Nathaniel H., Boothe, Megan, Lippa, Natalie C., Aggarwal, Vimla, De Vivo, Darryl C., Lehman, Anna, Study, Causes, Stockler, Sylvia, Bruel, Ange-Line, Isidor, Bertrand, Lemons, Jennifer, Rodriguez-Buritica, David F., Richmond, Christopher M., Stark, Zornitza, Agrawal, Pankaj B., Kooy, R. Frank, Meuwissen, Marije E. C., Koolen, David A., Pfundt, Rolf, Lieden, Agne, Anderlid, Britt-Marie, Glatz, Dagmar, Mannens, Marcel M. A. M., Bakshi, Madhura, Mallette, Frédérick A., van Haelst, Mieke M., Campeau, Philippe M.

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Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure von Richmond, Christopher M., Campbell, Sally, Foo, Hee W., Lunke, Sebastian, Stark, Zornitza, Moody, Amanda, Bannister, Elizabeth, Greenway, Anthea, Brown, Natasha

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Somatic PIK3CA Variants Are Associated With Eccrine Angiomatous Hamartomas von Bricknell, Lana, Richmond, Christopher M., Das Gupta, Romi, Payton, Diane, Phua, Yun, Kimble, Roy M.

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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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JARID2haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome von Verberne, Eline A., Goh, Shuxiang, England, Jade, van Ginkel, Manon, Rafael-Croes, Louise, Maas, Saskia, Polstra, Abeltje, Zarate, Yuri A., Bosanko, Katherine A., Pechter, Kieran B., Bedoukian, Emma, Izumi, Kosuke, Chaudhry, Ayeshah, Robin, Nathaniel H., Boothe, Megan, Lippa, Natalie C., Aggarwal, Vimla, De Vivo, Darryl C., Lehman, Anna, Stockler, Sylvia, Bruel, Ange-Line, Isidor, Bertrand, Lemons, Jennifer, Rodriguez-Buritica, David F., Richmond, Christopher M., Stark, Zornitza, Agrawal, Pankaj B., Kooy, R. Frank, Meuwissen, Marije E. C., Koolen, David A., Pfundt, Rolf, Lieden, Agne, Anderlid, Britt-Marie, Glatz, Dagmar, Mannens, Marcel M. A. M., Bakshi, Madhura, Mallette, Frederick A., van Haelst, Mieke M., Campeau, Philippe M.

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Modeling scenarios for mitigating outbreaks in congregate settings von Blumberg, Seth, Lu, Phoebe, Kwan, Ada T, Hoover, Christopher M, Lloyd-Smith, James O, Sears, David, Bertozzi, Stefano M, Worden, Lee

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Delineating the phenotype of RNU4ATAC-related spliceosomopathy von Tabib, Amanda, Richmond, Christopher M, McGaughran, Julie

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Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family von Rodgers, Jonathan, Richmond, Christopher M, McGaughran, Julie

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Clinical overlap of PHACE and LUMBAR syndromes von Davenport, Rachael, Su, John C, Nathalie, Janice, Richmond, Christopher M, Yang Tan, Tiong, Robertson, Susan J

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A decade of remotely sensed observations highlight complex processes linked to coastal permafrost bluff erosion in the Arctic von Jones, Benjamin M, Farquharson, Louise M, Baughman, Carson A, Buzard, Richard M, Arp, Christopher D, Grosse, Guido, Bull, Diana L, Günther, Frank, Nitze, Ingmar, Urban, Frank, Kasper, Jeremy L, Frederick, Jennifer M, Thomas, Matthew, Jones, Craig, Mota, Alejandro, Dallimore, Scott, Tweedie, Craig, Maio, Christopher, Mann, Daniel H, Richmond, Bruce, Gibbs, Ann, Xiao, Ming, Sachs, Torsten, Iwahana, Go, Kanevskiy, Mikhail, Romanovsky, Vladimir E

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Capturing snapshots of post-synthetic metallation chemistry in metal–organic frameworks von Bloch, Witold M., Burgun, Alexandre, Coghlan, Campbell J., Lee, Richmond, Coote, Michelle L., Doonan, Christian J., Sumby, Christopher J.

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Effect of Aspirin on Disability-free Survival in the Healthy Elderly von McNeil, John J, Woods, Robyn L, Nelson, Mark R, Reid, Christopher M, Kirpach, Brenda, Wolfe, Rory, Storey, Elsdon, Shah, Raj C, Lockery, Jessica E, Tonkin, Andrew M, Newman, Anne B, Williamson, Jeff D, Margolis, Karen L, Ernst, Michael E, Abhayaratna, Walter P, Stocks, Nigel, Fitzgerald, Sharyn M, Orchard, Suzanne G, Trevaks, Ruth E, Beilin, Lawrence J, Donnan, Geoffrey A, Gibbs, Peter, Johnston, Colin I, Ryan, Joanne, Radziszewska, Barbara, Grimm, Richard, Murray, Anne M

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Effect of Aspirin on All-Cause Mortality in the Healthy Elderly von McNeil, John J, Nelson, Mark R, Woods, Robyn L, Lockery, Jessica E, Wolfe, Rory, Reid, Christopher M, Kirpach, Brenda, Shah, Raj C, Ives, Diane G, Storey, Elsdon, Ryan, Joanne, Tonkin, Andrew M, Newman, Anne B, Williamson, Jeff D, Margolis, Karen L, Ernst, Michael E, Abhayaratna, Walter P, Stocks, Nigel, Fitzgerald, Sharyn M, Orchard, Suzanne G, Trevaks, Ruth E, Beilin, Lawrence J, Donnan, Geoffrey A, Gibbs, Peter, Johnston, Colin I, Radziszewska, Barbara, Grimm, Richard, Murray, Anne M

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