Not logged in Navigating from cellular phenotypic screen to clinical candidate: selective targeting of the NLRP3 inflammasome Matico, Rosalie; Grauwen, Karolien; Chauhan, Dhruv; Yu, Xiaodi; Abdiaj, Irini; Adhikary, Suraj; Adriaensen, Ine; Aranzazu, Garcia Molina; Alcazar, Jesus; Bassi, Michela; Brisse, Ellen; Canellas, Santiago; Chaudhuri, Shubhra; Delgado, Francisca; Dieguez-Vazquez, Alejandro; Du Jardin, Marc; Eastham, Victoria; Finley, Michael; Jacobs, Tom; Keustermans, Ken; Kuhn, Robert; Llaveria, Josep; Leenaerts, Jos; Linares, Maria Lourdes; Martin, Maria Luz; Martin-Perez, Rosa; Martinez, Carlos; Miller, Robyn; Munoz, Frances M.; Muratore, Michael E.; Nooyens, Amber; Perez-Benito, Laura; Perrier, Mathieu; Pietrak, Beth; Serre, Jef; Sharma, Sujata; Somers, Marijke; Suarez, Javier; Tresadern, Gary; Trabanco, Andres A.; van den Bulck, Dries; Van Gool, Michiel; Van Hauwermeiren, Filip; Varghese, Teena; Vega, Juan Antonio; Youssef, Sameh A.; Edwards, Matthew J.; Oehlrich, Daniel; Van Opdenbosch, Nina Share Save
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Epithelial Interleukin-1 Receptor-Like-1 Activation Is Contingent on Interleukin-33 Isoforms and Asthma-Related Receptor Variation Portelli, Michael A.; Ketelaar, Maria E.; Bates, Stewart; Csomor, Eszter; Shaw, Dominick; Emsley, Jonas; Brightling, Christopher; Hall, Ian; Affleck, Karen; Edwards, Matthew; Nawijn, Martijn C.; Koppelman, Gerard H.; Van Oosterhout, Antoon J.; Sayers, Ian Share Save
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A novel variant in PTPN11, c.1277A>G p.(His426Arg), in a patient with Noonan syndrome with multiple lentigines Kuo, Olivia; Molloy, Kevin; Sabir, Ataf; Fleming, Andrew; Edwards, Matthew; Morris-Rosendahl, Deborah; Fassihi, Hiva; Preston, Philip Share Save
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations Dias, Kerith-Rae; Carlston, Colleen M.; Blok, Laura E. R.; De Hayr, Lachlan; Nawaz, Urwah; Evans, Carey-Anne; Bayrak-Toydemir, Pinar; Htun, Stephanie; Zhu, Ying; Ma, Alan; Lynch, Sally Ann; Moorwood, Catherine; Stals, Karen; Ellard, Sian; Bainbridge, Matthew N.; Friedman, Jennifer; Pappas, John G.; Rabin, Rachel; Nowak, Catherine B.; Douglas, Jessica; Wilson, Theodore E.; Sacoto, Maria J. Guillen; Mullegama, Sureni, V; Palculict, Timothy Blake; Kirk, Edwin P.; Pinner, Jason R.; Edwards, Matthew; Montanari, Francesca; Graziano, Claudio; Pippucci, Tommaso; Dingmann, Bri; Glass, Ian; Mefford, Heather C.; Shimoji, Takeyoshi; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Streff, Haley; Schaaf, Christian P.; Slavotinek, Anne M.; Voineagu, Irina; Carey, John C.; Buckley, Michael F.; Schenck, Annette; Harvey, Robert J.; Roscioli, Tony Share Save
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants Bournazos, Adam M.; Riley, Lisa G.; Bommireddipalli, Shobhana; Ades, Lesley; Akesson, Lauren S.; Al-Shinnag, Mohammad; Alexander, Stephen, I; Archibald, Alison D.; Balasubramaniam, Shanti; Berman, Yemima; Beshay, Victoria; Boggs, Kirsten; Bojadzieva, Jasmina; Brown, Natasha J.; Bryen, Samantha J.; Buckley, Michael F.; Chong, Belinda; Davis, Mark R.; Dawes, Ruebena; Delatycki, Martin; Donaldson, Liz; Downie, Lilian; Edwards, Caitlin; Edwards, Matthew; Engel, Amanda; Ewans, Lisa J.; Faiz, Fathimath; Fennell, Andrew; Field, Michael; Freckmann, Mary-Louise; Gallacher, Lyndon; Gear, Russell; Goel, Himanshu; Goh, Shuxiang; Goodwin, Linda; Hanna, Bernadette; Harraway, James; Higgins, Megan; Ho, Gladys; Hopper, Bruce K.; Horton, Ari E.; Hunter, Matthew F.; Huq, Aamira J.; Josephi-Taylor, Sarah; Joshi, Himanshu; Kirk, Edwin; Krzesinski, Emma; Kumar, Kishore R.; Lemckert, Frances; Leventer, Richard J.; Lindsey-Temple, Suzanna E.; Lunke, Sebastian; Ma, Alan; Macaskill, Steven; Mallawaarachchi, Amali; Marty, Melanie; Marum, Justine E.; McCarthy, Hugh J.; Menezes, Manoj P.; McLean, Alison; Milnes, Di; Mohammad, Shekeeb; Mowat, David; Niaz, Aram; Palmer, Elizabeth E.; Patel, Chirag; Patel, Shilpan G.; Phelan, Dean; Pinner, Jason R.; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rodrigues, Miriam; Roxburgh, Richard H.; Sachdev, Rani; Roscioli, Tony; Samarasekera, Ruvishani; Sandaradura, Sarah A.; Savva, Elena; Schindler, Tim; Shah, Margit; Sinnerbrink, Ingrid B.; Smith, Janine M.; Smith, Richard J.; Springer, Amanda; Stark, Zornitza; Strom, Samuel P.; Sue, Carolyn M.; Tan, Kenneth; Tan, Tiong Y.; Tantsis, Esther; Tchan, Michel C.; Thompson, Bryony A.; Trainer, Alison H.; Van Spaendonck-Zwarts, Karin; Walsh, Rebecca; Warwick, Linda; White, Stephanie; White, Susan M.; Williams, Mark G.; Wilson, Meredith J.; Wong, Wui Kwan; Wright, Dale C.; Yap, Patrick; Yeung, Alison; Young, Helen; Jones, Kristi J.; Bennetts, Bruce; Cooper, Sandra T. Share Save
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System 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 Share Save
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics Ravenscroft, Gina; Clayton, Joshua S.; Faiz, Fathimath; Sivadorai, Padma; Milnes, Di; Cincotta, Rob; Moon, Phillip; Kamien, Ben; Edwards, Matthew; Delatycki, Martin; Lamont, Phillipa J.; Chan, Sophelia H. S.; Colley, Alison; Ma, Alan; Collins, Felicity; Hennington, Lucinda; Zhao, Teresa; McGillivray, George; Ghedia, Sondhya; Chao, Katherine; O'Donnell-Luria, Anne; Laing, Nigel G.; Davis, Mark R. Share Save
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System 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 Share Save
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Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants Chapman, Gavin; Moreau, Julie L. M.; Ip, Eddie; Szot, Justin O.; Iyer, Kavitha R.; Shi, Hongjun; Yam, Michelle X.; O'Reilly, Victoria C.; Enriquez, Annabelle; Greasby, Joelene A.; Alankarage, Dimuthu; Martin, Ella M. M. A.; Hanna, Bernadette C.; Edwards, Matthew; Monger, Steven; Blue, Gillian M.; Winlaw, David S.; Ritchie, Helen E.; Grieve, Stuart M.; Giannoulatou, Eleni; Sparrow, Duncan B.; Dunwoodie, Sally L. Share Save
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation Whiffin, Nicola; Walsh, Roddy; Govind, Risha; Edwards, Matthew; Ahmad, Mian; Zhang, Xiaolei; Tayal, Upasana; Buchan, Rachel; Midwinter, William; Wilk, Alicja E.; Najgebauer, Hanna; Francis, Catherine; Wilkinson, Sam; Monk, Thomas; Brett, Laura; O'Regan, Declan P.; Prasad, Sanjay K.; Morris-Rosendahl, Deborah J.; Barton, Paul J. R.; Edwards, Elizabeth; Ware, James S.; Cook, Stuart A. Share Save
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome Dagar, Vinod; Hutchison, Wendy; Muscat, Andrea; Krishnan, Anita; Hoke, David; Buckle, Ashley; Siswara, Priscillia; Amor, David J.; Mann, Jeffrey; Pinner, Jason; Colley, Alison; Wilson, Meredith; Sachdev, Rani; McGillivray, George; Edwards, Matthew; Kirk, Edwin; Collins, Felicity; Jones, Kristi; Taylor, Juliet; Hayes, Ian; Thompson, Elizabeth; Barnett, Christopher; Haan, Eric; Freckmann, Mary-Louise; Turner, Anne; White, Susan; Kamien, Ben; Ma, Alan; Mackenzie, Fiona; Baynam, Gareth; Kiraly-Borri, Cathy; Field, Michael; Dudding-Byth, Tracey; Algar, Elizabeth M. Share Save
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder Cuvertino, Sara; Stuart, Helen M.; Chandler, Kate E.; Roberts, Neil A.; Armstrong, Ruth; Bernardini, Laura; Bhaskar, Sanjeev; Callewaert, Bert; Clayton-Smith, Jill; Hernando Davalillo, Cristina; Deshpande, Charu; Devriendt, Koenraad; Digilio, Maria C.; Dixit, Abhijit; Edwards, Matthew; Friedman, Jan M.; Gonzalez-Meneses, Antonio; Joss, Shelagh; Kerr, Bronwyn; Lampe, Anne Katrin; Langlois, Sylvie; Lennon, Rachel; Loget, Philippe; Ma, David Y. T.; McGowan, Ruth; Des Medt, Maryse; O'Sullivan, James; Odent, Sylvie; Parker, Michael J.; Pebrel-Richard, Celine; Petit, Florence; Stark, Zornitza; Stockler-Ipsiroglu, Sylvia; Tinschert, Sigrid; Vasudevan, Pradeep; Villa, Olaya; White, Susan M.; Zahir, Farah R.; Woolf, Adrian S.; Banka, Siddharth Share Save
A Comprehensive Evaluation of Nasal and Bronchial Cytokines and Chemokines Following Experimental Rhinovirus Infection in Allergic Asthma: Increased Interferons (IFN-γ and IFN-λ) and Type 2 Inflammation (IL-5 and IL-13) Hansel, Trevor T.; Tunstall, Tanushree; Trujillo-Torralbo, Maria-Belen; Shamji, Betty; del-Rosario, Ajerico; Dhariwal, Jaideep; Kirk, Paul D. W.; Stumpf, Michael P. H.; Koopmann, Jens; Telcian, Aurica; Aniscenko, Julia; Gogsadze, Leila; Bakhsoliani, Eteri; Stanciu, Luminita; Bartlett, Nathan; Edwards, Michael; Walton, Ross; Mallia, Patrick; Hunt, Toby M.; Hunt, Trevor L.; Hunt, Duncan G.; Westwick, John; Edwards, Matthew; Kon, Onn Min; Jackson, David J.; Johnston, Sebastian L. Share Save
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Interleukin-18 Is Associated With Protection Against Rhinovirus-Induced Colds and Asthma Exacerbations Jackson, David J.; Glanville, Nicholas; Trujillo-Torralbo, Maria-Belen; Shamji, Betty W. H.; del-Rosario, Jerico; Mallia, Patrick; Edwards, Matthew J.; Walton, Ross P.; Edwards, Michael R.; Johnston, Sebastian L. Share Save
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