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Implementing Publicly Funded Fetal Exome Sequencing: A Statewide Multidisciplinary Model for Equitable Integration of Genomics Into Perinatal Care Gheysen, Willem; Hamill, Calder; Fawcett, Susan; Davis, Tenielle; Vasudevan, Anand; Kane, Stefan C.; Graetz, Melissa; Dao, Candice; Amor, David J.; Downie, Lilian; Fahey, Michael C.; Gelfand, Nikki; Palmer, Kirsten R.; Riley, Kate; Said, Joanne M.; Hui, Lisa Share Save
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Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework Tutty, Erin; Archibald, Alison D.; Downie, Lilian; Gaff, Clara; Lunke, Sebastian; Vears, Danya F.; Stark, Zornitza; Best, Stephanie Share Save
Australian public perspectives on genomic newborn screening: which conditions should be included? Lynch, Fiona; Best, Stephanie; Gaff, Clara; Downie, Lilian; Archibald, Alison D.; Gyngell, Christopher; Goranitis, Ilias; Peters, Riccarda; Savulescu, Julian; Lunke, Sebastian; Stark, Zornitza; Vears, Danya F. Share Save
Gene selection for genomic newborn screening: Moving toward consensus? Downie, Lilian; Bouffler, Sophie E.; Amor, David J.; Christodoulou, John; Yeung, Alison; Horton, Ari E.; Macciocca, Ivan; Archibald, Alison D.; Wall, Meghan; Caruana, Jade; Lunke, Sebastian; Stark, Zornitza Share Save
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation Lynch, Fiona; Best, Stephanie; Gaff, Clara; Downie, Lilian; Archibald, Alison D.; Gyngell, Christopher; Goranitis, Ilias; Peters, Riccarda; Savulescu, Julian; Lunke, Sebastian; Stark, Zornitza; Vears, Danya F. Share Save
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (vol 25, 100927, 2023) Harms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; van der Smagt, Jasper; Ernst, Robert; van Binsbergen, Ellen; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin Share Save
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias Harms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; Van der Smagt, Jasper; Ernst, Robert; Van Binsbergen, Ellen; Mancini, Grazia M. S.; Van Slegtenhorst, Marjon; Barakat, Tahsin S.; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin Share Save
Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening Shum, Bennett Oh Vic; Pretorius, Carel Jacobus; Sng, Letitia Min Fen; Henner, Ilya; Barahona, Paulette; Basar, Emre; McGill, Jim; Wilgen, Urs; Zournazi, Anna; Downie, Lilian; Taylor, Natalie; Cheney, Liam; Wu, Sylvania; Twine, Natalie Angela; Bauer, Denis Carolin; Watts, Gerald Francis; Navilebasappa, Akash; Kumar, Kishore Rajagopal; Ungerer, Jacobus Petrus Johannes; Bennett, Glenn Share Save
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development(jan, 10.1038/s41380022-01764-8, 2023) Kaspi, Antony; Hildebrand, Michael S.; Jackson, Victoria E.; Braden, Ruth; van Reyk, Olivia; Howell, Tegan; Debono, Simone; Lauretta, Mariana; Morison, Lottie; Coleman, Matthew J.; Webster, Richard; Coman, David; Goel, Himanshu; Wallis, Mathew; Dabscheck, Gabriel; Downie, Lilian; Baker, Emma K.; Parry-Fielder, Bronwyn; Ballard, Kirrie; Harrold, Eva; Ziegenfusz, Shaun; Bennett, Mark F.; Robertson, Erandee; Wang, Longfei; Boys, Amber; Fisher, Simon E.; Amor, David J.; Scheffer, Ingrid E.; Bahlo, Melanie; Morgan, Angela T. Share Save
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability Francis, David I.; Stark, Zornitza; Scheffer, Ingrid E.; Tan, Tiong Yang; Murali, Krithika; Gallacher, Lyndon; Amor, David J.; Goel, Himanshu; Downie, Lilian; Stutterd, Chloe A.; Krzesinski, Emma I.; Vasudevan, Anand; Oertel, Ralph; Petrovic, Vida; Boys, Amber; Wei, Vivian; Burgess, Trent; Dun, Karen; Oliver, Karen L.; Baxter, Anne; Hackett, Anna; Ayres, Samantha; Lunke, Sebastian; Kalitsis, Paul; Wall, Meaghan Share Save
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development Kaspi, Antony; Hildebrand, Michael S.; Jackson, Victoria E.; Braden, Ruth; van Reyk, Olivia; Howell, Tegan; Debono, Simone; Lauretta, Mariana; Morison, Lottie; Coleman, Matthew J.; Webster, Richard; Coman, David; Goel, Himanshu; Wallis, Mathew; Dabscheck, Gabriel; Downie, Lilian; Baker, Emma K.; Parry-Fielder, Bronwyn; Ballard, Kirrie; Harrold, Eva; Ziegenfusz, Shaun; Bennett, Mark F.; Robertson, Erandee; Wang, Longfei; Boys, Amber; Fisher, Simon E.; Amor, David J.; Scheffer, Ingrid E.; Bahlo, Melanie; Morgan, Angela T. 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
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program Cloney, Thomas; Gallacher, Lyndon; Pais, Lynn S.; Tan, Natalie B.; Yeung, Alison; Stark, Zornitza; Brown, Natasha J.; McGillivray, George; Delatycki, Martin B.; de Silva, Michelle G.; Downie, Lilian; Stutterd, Chloe A.; Elliott, Justine; Compton, Alison G.; Lovgren, Alysia; Oertel, Ralph; Francis, David; Bell, Katrina M.; Sadedin, Simon; Lim, Sze Chern; Helman, Guy; Simons, Cas; Macarthur, Daniel G.; Thorburn, David R.; O'Donnell-Luria, Anne H.; Christodoulou, John; White, Susan M.; Tan, Tiong Yang Share Save
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