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Whole Genome Sequencing of Mutation-Negative Individuals With Cornelia de Lange Syndrome Ansari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L.; D'Souza, Elston N.; Barnett, Christopher; Wilkie, Andrew O. M.; Barnicoat, Angela; Patel, Chirag V.; Sukarova-Angelovska, Elena; Girisha, Katta M.; Firth, Helen V.; Prescott, Katrina; Wilson, Louise C.; Mcentagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T.; Lam, Wayne K.; Sisodiya, Sanjay M.; Green, Andrew J.; Poke, Gemma; Whiffin, Nicola; Fitzpatrick, David R.; Meynert, Alison Share Save
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing Ball, Megan; Bouffer, Sophie E.; Barnett, Christopher B.; Freckmann, Mary-Louise; Hunter, Matthew F.; Kamien, Benjamin; Kassahn, Karin S.; Lunke, Sebastian; Patel, Chirag, V; Pinner, Jason; Roscioli, Tony; Sandaradura, Sarah A.; Scott, Hamish S.; Tan, Tiong Y.; Wallis, Mathew; Compton, Alison G.; Thorburn, David R.; Stark, Zornitza; Christodoulou, John Share Save
A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability McCorkell, Giulia; Nisselle, Amy; Halton, Donna; Bouffter, Sophie E.; Patel, Chirag; Christodoulou, John; Maher, Fran; McClaren, Belinda; Brett, Gemma R.; Sandaradura, Sarah; Boggs, Kirsten; de Silva, Michelle G.; Lynch, Fiona; Macciocca, Ivan; Lynch, Elly; Martyn, Melissa; Best, Stephanie; Stark, Zornitza; Gaff, Clara L. Share Save
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023 Mallawaarachchi, Amali; Biros, Erik; Harris, Trudie; Bennetts, Bruce; Boughtwood, Tiffany; Elliott, Justine; Fowles, Lindsay; Gardos, Robert; Garza, Denisse; Goranitis, Ilias; Haas, Matilda; Huntley, Vanessa; Jefferis, Julia; Kassahn, Karin; Leaver, Anna; Lundie, Ben; Lunke, Sebastian; O'Connor, Caitlin; Pratt, Greg; Quinlan, Catherine; Shearman, Dianne; Soraru, Jacqueline; Sundaram, Madhivanan; Tchan, Michel; Valente, Giulia; White, Julie; Wilkins, Ella; Alexander, Steve I.; Amir, Noa; Best, Stephanie; Gul, Hossai; Jayasinghe, Kushani; McCarthy, Hugh; Patel, Chirag; Stark, Zornitza; Mallett, Andrew J. Share Save
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants Mohammadi, Nazanin Azarinejad; Ahring, Philip Kiaer; Liao, Vivian Wan Yu; Chua, Han Chow; Rosa, Sebastian Ortiz de la; Johannesen, Katrine Marie; Michaeli-Yossef, Yael; Vincent-Devulder, Aline; Meridda, Catherine; Bruel, Ange-Line; Rossi, Alessandra; Patel, Chirag; Klepper, Joerg; Bonanni, Paolo; Minghetti, Sara; Trivisano, Marina; Specchio, Nicola; Amor, David; Auvin, Stephane; Baer, Sarah; Meyer, Pierre; Milh, Mathieu; Salpietro, Vincenzo; Maroo, Reza; Lemke, Johannes R.; Weckhuysen, Sarah; Christophersen, Palle; Rubboli, Guido; Chebib, Mary; Jensen, Anders A.; Absalom, Nathan L.; Moller, Rikke Steensbjerre Share Save
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years Jayasinghe, Kushani; Biros, Erik; Harris, Trudie; Wood, Alasdair; O'Shea, Rosie; Hill, Lauren; Fowles, Lindsay; Wardrop, Louise; Shalhoub, Carolyn; Hahn, Deirdre; Rangan, Gopala; Kevin, Lucy; Tchan, Michel; Snelling, Paul; Sandow, Rhiannon; Sundaram, Madhivan; Chaturvedi, Swasti; Trnka, Peter; Faull, Randall; Poplawski, Nicola K.; Huntley, Vanessa; Garza, Denisse; Wallis, Mathew; Jose, Matthew; Leaver, Anna; Trainer, Alison H.; Wilkins, Ella J.; White, Sue; Elbaum, Yoni; Prawer, Yael; Krzesinski, Emma; Valente, Giulia; Winship, Ingrid; Ryan, Jessica; Whitlam, John; Nicholls, Kathy; West, Kirsty; Donaldson, Liz; Johnstone, Lilian; Lewit-Mendes, Miranda; Kerr, Peter G.; Bodek, Simon; Chakera, Aron; MacShane, Mandi; Mincham, Christine; Stackpoole, Elaine; Willis, Francis; Soraru, Jacqueline; Pachter, Nick; Bennetts, Bruce; Forbes, Thomas A.; Mallawaarachchi, Amali; Quinlan, Catherine; Patel, Chirag; McCarthy, Hugh; Goranitis, Illias; Best, Stephanie; Alexander, Stephen; Stark, Zornitza; Mallett, Andrew J. Share Save
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services Best, Stephanie; Fehlberg, Zoe; Richards, Christopher; Quinn, Michael C. J.; Lunke, Sebastian; Spurdle, Amanda B.; Kassahn, Karin S.; Patel, Chirag; Vears, Danya F.; Goranitis, Ilias; Lynch, Fiona; Robertson, Alan; Tudini, Emma; Christodoulou, John; Scott, Hamish; McGaughran, Julie; Stark, Zornitza Share Save
Genomic Testing in Patients with Kidney Failure of an Unknown Cause A National Australian Study Mallawaarachchi, Amali C.; Fowles, Lindsay; Wardrop, Louise; Wood, Alasdair; O'Shea, Rosie; Biros, Erik; Harris, Trudie; Alexander, Stephen I.; Bodek, Simon; Boudville, Neil; Burke, Jo; Burnett, Leslie; Casauria, Sarah; Chadban, Steve; Chakera, Aron; Crafter, Sam; Dai, Pei; De Fazio, Paul; Faull, Randall; Honda, Andrew; Huntley, Vanessa; Jahan, Sadia; Jayasinghe, Kushani; Jose, Matthew; Leaver, Anna; Macshane, Mandi; Madelli, Evanthia Olympia; Nicholls, Kathy; Pawlowski, Rhonda; Rangan, Gopi; Snelling, Paul; Soraru, Jacqueline; Sundaram, Madhivanan; Tchan, Michel; Valente, Giulia; Wallis, Mathew; Wedd, Laura; Welland, Matthew; Whitlam, John; Wilkins, Ella J.; McCarthy, Hugh; Simons, Cas; Quinlan, Catherine; Patel, Chirag; Stark, Zornitza; Mallett, Andrew J. Share Save
Response to Lombardi and Mesnard Wu, You; Jayasinghe, Kushani; Stark, Zornitza; Quinlan, Catherine; Patel, Chirag; McCarthy, Hugh; Mallawaarachchi, Amali C.; Kerr, Peter G.; Alexander, Stephen I.; Mallett, Andrew J.; Goranitis, Ilias Share Save
Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation Wu, You; Jayasinghe, Kushani; Stark, Zornitza; Quinlan, Catherine; Patel, Chirag; Mccarthy, Hugh; Mallawaarachchi, Amali C.; Kerr, Peter G.; Alexander, Stephen; Mallett, Andrew J.; Goranitis, Ilias Share Save
Integrated multi-omics for rapid rare disease diagnosis on a national scale Lunke, Sebastian; Bouffler, Sophie. E. E.; Patel, Chirag. V. V.; Sandaradura, Sarah. A. A.; Wilson, Meredith; Pinner, Jason; Hunter, Matthew. F. F.; Barnett, Christopher. P. P.; Wallis, Mathew; Kamien, Benjamin; Tan, Tiong. Y. Y.; Freckmann, Mary-Louise; Chong, Belinda; Phelan, Dean; Francis, David; Kassahn, Karin. S. S.; Ha, Thuong; Gao, Song; Arts, Peer; Jackson, Matilda. R. S. R.; Scott, Hamish. S. S.; Eggers, Stefanie; Rowley, Simone; Boggs, Kirsten; Rakonjac, Ana; Brett, Gemma. R. R.; de Silva, Michelle. G. G.; Springer, Amanda; Ward, Michelle; Stallard, Kirsty; Simons, Cas; Conway, Thomas; Halman, Andreas; Van Bergen, Nicole. J. J.; Sikora, Tim; Semcesen, Liana. N. N.; Stroud, David. A. A.; Compton, Alison. G. G.; Thorburn, David. R. R.; Bell, Katrina. M. M.; Sadedin, Simon; North, Kathryn. N. N.; Christodoulou, John; Stark, Zornitza Share Save
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants Vos, Niels; Reilly, Jack; Elting, Mariet W.; Campeau, Philippe M.; Coman, David; Stark, Zornitza; Tan, Tiong Yang; Amor, David J.; Kaur, Simran; StJohn, Miya; Morgan, Angela T.; Kamien, Benjamin A.; Patel, Chirag; Tedder, Matthew L.; Merla, Giuseppe; Prontera, Paolo; Castori, Marco; Muru, Kai; Collins, Felicity; Christodoulou, John; Smith, Janine; Zeev, Bruria Ben; Murgia, Alessandra; Leonardi, Emanuela; Esber, Natacha; Martinez-Monseny, Antonio; Casas-Alba, Didac; Wallis, Matthew; Mannens, Marcel; Levy, Michael A.; Relator, Raissa; Alders, Marielle; Sadikovic, Bekim Share Save
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death Byrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Byrne, Alicia B.; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Pais, Lynn S.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Khong, T. Yee; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Lipsett, Jill; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Manton, Nick; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGillivray, George; McGregor, Lesley; McKenzie, Fiona; Mittal, Namita; Moghimi, Ali; Moore, Lynette; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui Share Save
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 Morison, Lottie D.; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; Braden, Ruth; Vogel, Adam; Thompson-Lake, Daisy; Patel, Chirag; Blair, Edward; Goel, Himanshu; Turner, Samantha; Moog, Ute; Riess, Angelika; Liegeois, Frederique; Koolen, David A.; Amor, David J.; Kleefstra, Tjitske; Fisher, Simon E.; Zweier, Christiane; Morgan, Angela T. Share Save
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