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Nationwide, Couple-Based Genetic Carrier Screening Kirk, E. P.; Delatycki, M. B.; Archibald, A. D.; Tutty, E.; Caruana, J.; Halliday, J. L.; Lewis, S.; Mcclaren, B. J.; Newson, A. J.; Dive, L.; Best, S.; Long, J. C.; Braithwaite, J.; Downes, M. J.; Scuffham, P. A.; Massie, J.; Barlow-Stewart, K.; Kulkarni, A.; Ruscigno, A.; Kanga-Parabia, A.; Rodrigues, B.; Bennetts, B. H.; Ebzery, C.; Hunt, C.; Cliffe, C. C.; Lee, C.; Azmanov, D.; King, E. A.; Madelli, E. O.; Zhang, F.; Ho, G.; Danos, I.; Liebelt, J.; Fletcher, J.; Kennedy, J.; Beilby, J.; Emery, J. D.; Mcgaughran, J.; Marum, J. E.; Scarff, K.; Fisk, K.; Harrison, K.; Boggs, K.; Giameos, L.; Fitzgerald, L.; Thomas, L.; Burnett, L.; Freeman, L.; Harris, M.; Berbic, M.; Davis, M. R.; Cifuentes Ochoa, M.; Wallis, M.; Wall, M.; Chow, M. T. M.; Ferrie, M. M.; Pachter, N.; Quayum, N.; Lang, N.; Pandy, P. Kasi; Casella, R.; Allcock, R. J. N.; Ong, R.; Edwards, S.; Sundercombe, S.; Jelenich, S.; Righetti, S.; Lunke, S.; Kaur, S.; Stock-Myer, S.; Eggers, S.; Walker, S. P.; Theodorou, T.; Catchpool, T.; Clinch, T.; Roscioli, T.; Hardy, T.; Zhu, Y.; Fehlberg, Z.; Boughtwood, T. F.; Laing, N. G. Share Save
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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort 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; Ades, Lesley C.; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M.; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J.; Perez-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 Share Save
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia Hall, Hildegard Nikki; Parry, David; Halachev, Mihail; Williamson, Kathleen A.; Donnelly, Kevin; Campos Parada, Jose; Bhatia, Shipra; Joseph, Jeffrey; Holden, Simon; Prescott, Trine E.; Bitoun, Pierre; Kirk, Edwin P.; Newbury-Ecob, Ruth; Lachlan, Katherine; Bernar, Juan; van Heyningen, Veronica; Fitzpatrick, David R.; Meynert, Alison Share Save
Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line Marjaneh, Mahdi Moradi; Kirk, Edwin P.; Patrick, Ralph; Alankarage, Dimuthu; Humphreys, David T.; Del Monte-Nieto, Gonzalo; Cornejo-Paramo, Paola; Janbandhu, Vaibhao; Doan, Tram B.; Dunwoodie, Sally L.; Wong, Emily S.; Moran, Chris; Martin, Ian C. A.; Thomson, Peter C.; Harvey, Richard P. Share Save
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Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection Terrill, Bronwyn; McKnight, Lauren; Pearce, Angela; Gordon, Heather; Lo, William; Lee, I-Chieh Jennifer; Runiewicz, Monica; Palmer, Alex; Andrews, Lesley; Kirk, Edwin; Goldberg, Daniel; Tucker, John; Murray, David; Kaplan, Warren; Kummerfeld, Sarah; Burnett, Leslie Share Save
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The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation Archibald, Alison D.; McClaren, Belinda J.; Caruana, Jade; Tutty, Erin; King, Emily A.; Halliday, Jane L.; Best, Stephanie; Kanga-Parabia, Anaita; Bennetts, Bruce H.; Cliffe, Corrina C.; Madelli, Evanthia O.; Ho, Gladys; Liebelt, Jan; Long, Janet C.; Braithwaite, Jeffrey; Kennedy, Jillian; Massie, John; Emery, Jon D.; McGaughran, Julie; Marum, Justine E.; Boggs, Kirsten; Barlow-Stewart, Kristine; Burnett, Leslie; Dive, Lisa; Freeman, Lucinda; Davis, Mark R.; Downes, Martin J.; Wallis, Mathew; Ferrie, Monica M.; Pachter, Nicholas; Scuffham, Paul A.; Casella, Rachael; Allcock, Richard J. N.; Ong, Royston; Edwards, Samantha; Righetti, Sarah; Lunke, Sebastian; Lewis, Sharon; Walker, Susan P.; Boughtwood, Tiffany F.; Hardy, Tristan; Newson, Ainsley J.; Kirk, Edwin P.; Laing, Nigel G.; Delatycki, Martin B. 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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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
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