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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S.; Griffin, Kaitlyn R.; Jones, Kristi J.; Vilain, Catheline N.; Kadhim, Hazim; Bryen, Samantha J.; Faiz, Fathimath; Waddell, Leigh B.; Evesson, Frances J.; Bakshi, Madhura; Pinner, Jason R.; Charlton, Amanda; Brammah, Susan; Graf, Nicole S.; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C.; Illingworth, Marjorie A.; Thomas, Neil H.; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E.; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M.; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J.; Splitt, Miranda P.; Moldovan, Corina; de Silva, Deepthi C.; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T.; Laing, Nigel G.; Raymond, F. Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M.; Ravenscroft, Gianina; Wilkins, Marc R.; Cowley, Mark J.; Pinese, Mark; Phadke, Rahul; Davis, Mark R.; Muntoni, Francesco; Oates, Emily C. Share Save
A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study Balaji, Lakshmi; Forbes, Robin; Cairns, Anita; Sampaio, Hugo; Kornberg, Andrew J.; Sanders, Lauren; Lamont, Phillipa; Liang, Christina; Jones, Kristi J.; Nowak, Kristen; O'Gorman, Cullen; Woodcock, Ian; Briggs, Nancy; Yiu, Eppie M.; Farrar, Michelle A.; Kariyawasam, Didu Share Save
RNA variant assessment using transactivation and transdifferentiation Nicolas-Martinez, Emmylou C.; Robinson, Olivia; Pflueger, Christian; Gardner, Alison; Corbett, Mark A.; Ritchie, Tarin; Kroes, Thessa; van Eyk, Clare L.; Scheffer, Ingrid E.; Hildebrand, Michael S.; Barnier, Jean-Vianney; Rousseau, Veronique; Genevieve, David; Haushalter, Virginie; Piton, Amelie; Denomme-Pichon, Anne-Sophie; Bruel, Ange-Line; Nambot, Sophie; Isidor, Bertrand; Grigg, John; Gonzalez, Tina; Ghedia, Sondhya; Marchant, Rhett G.; Bournazos, Adam; Wong, Wui-Kwan; Webster, Richard I.; Evesson, Frances J.; Jones, Kristi J.; PERSYST Investigator Team, Kristi J.; Cooper, Sandra T.; Lister, Ryan; Gecz, Jozef; Jolly, Lachlan A. Share Save
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Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone Marchant, Rhett G.; Bryen, Samantha J.; Bahlo, Melanie; Cairns, Anita; Chao, Katherine R.; Corbett, Alastair; Davis, Mark R.; Ganesh, Vijay S.; Ghaoui, Roula; Jones, Kristi J.; Kornberg, Andrew J.; Lek, Monkol; Liang, Christina; MacArthur, Daniel G.; Oates, Emily C.; O'Donnell-Luria, Anne; O'Grady, Gina L.; Osei-Owusu, Ikeoluwa A.; Rafehi, Haloom; Reddel, Stephen W.; Roxburgh, Richard H.; Ryan, Monique M.; Sandaradura, Sarah A.; Scott, Liam W.; Valkanas, Elise; Weisburd, Ben; Young, Helen; Evesson, Frances J.; Waddell, Leigh B.; Cooper, Sandra T. Share Save
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency Gallon, Richard; Phelps, Rachel; Hayes, Christine; Brugieres, Laurence; Guerrini-Rousseau, Lea; Colas, Chrystelle; Muleris, Martine; Ryan, Neil A. J.; Evans, D. Gareth; Grice, Hannah; Jessop, Emily; Kunzemann-Martinez, Annabel; Marshall, Lilla; Schamschula, Esther; Oberhuber, Klaus; Azizi, Amedeo A.; Feldman, Hagit Baris; Beilken, Andreas; Brauer, Nina; Brozou, Triantafyllia; Dahan, Karin; Demirsoy, Ugur; Florkin, Benoit; Foulkes, William; Januszkiewicz-Lewandowska, Danuta; Jones, Kristi J.; Kratz, Christian P.; Lobitz, Stephan; Meade, Julia; Nathrath, Michaela; Pander, Hans-Jurgen; Perne, Claudia; Ragab, Iman; Ripperger, Tim; Rosenbaum, Thorsten; Rueda, Daniel; Sarosiek, Tomasz; Sehested, Astrid; Spier, Isabel; Suerink, Manon; Zimmermann, Stefanie-Yvonne; Zschocke, Johannes; Borthwick, Gillian M.; Wimmer, Katharina; Burn, John; Jackson, Michael S.; Santibanez-Koref, Mauro Share Save
AIM™ platform: A new immunotherapy approach for viral diseases Langan, David; Wang, Ruipeng; Tidwell, Keshanti; Mitiku, Selome; Farrell, Alison; Johnson, Catrina; Parks, Adam; Suarez, Lauren; Jain, Shweta; Kim, Sojung; Jones, Kristi; Oelke, Mathias; Zeldis, Jerome Share Save
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy Farrar, Michelle A.; Kariyawasam, Didu; Grattan, Sarah; Bayley, Klair; Davis, Mark; Holland, Sandra; Waddel, Leigh B.; Jones, Kristi; Lorentzos, Michelle; Ravine, Anja; Wotton, Tiffany; Wiley, Veronica Share Save
Water T2 could predict functional decline in patients with dysferlinopathy Moore, Ursula; Araujo, Ericky Caldas de Almeida; Reyngoudt, Harmen; Gordish-Dressman, Heather; Smith, Fiona E.; Wilson, Ian; James, Meredith; Mayhew, Anna; Rufibach, Laura; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Blamire, Andrew M.; Straub, Volker; Carlier, Pierre G.; Diaz-Manera, Jordi Share Save
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain Righetti, Sarah; Allcock, Richard J. N.; Yaplito-Lee, Joy; Adams, Louisa; Ellaway, Carolyn; Jones, Kristi J.; Selvanathan, Arthavan; Fletcher, Janice; Pitt, James; van Kuilenburg, Andre B. P.; Delatycki, Martin B.; Laing, Nigel G.; Kirk, Edwin P. Share Save
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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
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies Dworschak, Gabriel C.; Punetha, Jaya; Kalanithy, Jeshurun C.; Mingardo, Enrico; Erdem, Haktan B.; Akdemir, Zeynep C.; Karaca, Ender; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Jhangiani, Shalini N.; Hunter, Jill V.; Dakal, Tikam Chand; Dhabhai, Bhanupriya; Dabbagh, Omar; Alsaif, Hessa S.; Alkuraya, Fowzan S.; Maroofian, Reza; Houlden, Henry; Efthymiou, Stephanie; Dominik, Natalia; Salpietro, Vincenzo; Sultan, Tipu; Haider, Shahzad; Bibi, Farah; Thiele, Holger; Hoefele, Julia; Riedhammer, Korbinian M.; Wagner, Matias; Guella, Ilaria; Demos, Michelle; Keren, Boris; Buratti, Julien; Charles, Perrine; Nava, Caroline; Heron, Delphine; Heide, Solveig; Valkanas, Elise; Waddell, Leigh B.; Jones, Kristi J.; Oates, Emily C.; Cooper, Sandra T.; MacArthur, Daniel; Syrbe, Steffen; Ziegler, Andreas; Platzer, Konrad; Okur, Volkan; Chung, Wendy K.; O'Shea, Sarah A.; Alcalay, Roy; Fahn, Stanley; Mark, Paul R.; Guerrini, Renzo; Vetro, Annalisa; Hudson, Beth; Schnur, Rhonda E.; Hoganson, George E.; Burton, Jennifer E.; McEntagart, Meriel; Lindenberg, Tobias; Yilmaz, Oeznur; Odermatt, Benjamin; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R.; Reutter, Heiko Share Save
Effect of a multicomponent nutritional supplement on functional outcomes for Duchenne muscular dystrophy: A randomized controlled trial Davidson, Zoe E.; Hughes, Ian; Ryan, Monique M.; Kornberg, Andrew J.; Cairns, Anita G.; Jones, Kristi; Hutchence, Meghan; Sampaio, Hugo; Morrison, Margot; Truby, Helen Share Save
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale Jacobs, Marni B.; James, Meredith K.; Lowes, Linda P.; Alfano, Lindsay N.; Eagle, Michelle; Muni Lofra, Robert; Moore, Ursula; Feng, Jia; Rufibach, Laura E.; Rose, Kristy; Duong, Tina; Bello, Luca; Pedrosa-Hernandez, Irene; Holsten, Scott; Sakamoto, Chikako; Canal, Aurelie; Sanchez-Aguilera Praxedes, Nieves; Thiele, Simone; Siener, Catherine; Vandevelde, Bruno; DeWolf, Brittney; Maron, Elke; Guglieri, Michela; Hogrel, Jean-Yves; Blamire, Andrew M.; Carlier, Pierre G.; Spuler, Simone; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Diaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R.; Mayhew, Anna G.; Straub, Volker Share Save
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase 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. 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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