P191: Mitochondrial dysfunction in Rett syndrome: Searching for biomarkers

by Ashley Hertzog, Adviye Ayper Tolun, Carolyn Ellaway, Wendy Gold, Gladys Ho
Published 2023-01-01

Intronic variants in inborn errors of metabolism: Beyond the exome

by Ashley Hertzog, Ashley Hertzog, Arthavan Selvanathan, Elizabeth Farnsworth, Michel Tchan, Louisa Adams, Katherine Lewis, Adviye Ayper Tolun, Adviye Ayper Tolun, Bruce Bennetts, Bruce Bennetts, Gladys Ho, Gladys Ho, Kaustuv Bhattacharya, Kaustuv Bhattacharya
Published 2022-12-01

Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation

by Andrew J. Mallett, Catherine Quinlan, Chirag Patel, Lindsay Fowles, Joanna Crawford, Michael Gattas, Richard Baer, Bruce Bennetts, Gladys Ho, Katherine Holman, Cas Simons
Published 2019-09-01

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning

by Mona Sajeev, Sharon Chin, Gladys Ho, Bruce Bennetts, Bindu Parayil Sankaran, Bea Gutierrez, Beena Devanapalli, Adviye Ayper Tolun, Veronica Wiley, Janice Fletcher, Maria Fuller, Shanti Balasubramaniam
Published 2021-05-01

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

by Glenda M. Beaman, Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, Adrian S. Woolf, William G. Newman, William G. Newman
Published 2022-06-01

Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

by John Christodoulou, Claire Wakefield, Adam Jaffe, David S Armstrong, Hiran Selvadurai, Andre Schultz, Tim McDonald, David Mowat, Joanne Harrison, BRUCE BENNETTS, Nitin Kapur, Andrew Tai, Gladys Ho, Lauren Kelada, Nada Vidic, Kirsten Boggs, Suzanna Lindsey-Temple
Published 2022-02-01

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families

by Hope A. Tanudisastro, Katherine Holman, Gladys Ho, Elizabeth Farnsworth, Katrina Fisk, Thet Gayagay, Emma Hackett, Gemma Jenkins, Rahul Krishnaraj, Tiffany Lai, Karen Wong, Chirag Patel, Amali Mallawaarachchi, Andrew J. Mallett, Bruce Bennetts, Stephen I. Alexander, Hugh J. McCarthy
Published 2021-03-01

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies

by Benjamin M. Nash, Alan Ma, Gladys Ho, Elizabeth Farnsworth, Andre E. Minoche, Mark J. Cowley, Christopher Barnett, Janine M. Smith, To Ha Loi, Karen Wong, Luke St Heaps, Dale Wright, Marcel E. Dinger, Bruce Bennetts, John R. Grigg, Robyn V. Jamieson
Published 2022-03-01

The role of exome sequencing in childhood interstitial or diffuse lung disease

by Suzanna E. L. Temple, Gladys Ho, Bruce Bennetts, Kirsten Boggs, Nada Vidic, David Mowat, John Christodoulou, André Schultz, Thet Gayagay, Tony Roscioli, Ying Zhu, Sebastian Lunke, David Armstrong, Joanne Harrison, Nitin Kapur, Tim McDonald, Hiran Selvadurai, Andrew Tai, Zornitza Stark, Adam Jaffe
Published 2022-09-01

Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey

by Fred K Chen, Alex W Hewitt, Alan Ma, John Grigg, Keith R Martin, Robyn Jamieson, Heather G Mack, Fleur O’Hare, David Mackey, John De Roach, Alexis Ceecee Britten-Jones, Myra McGuinness, Nicole Tindill, Lauren Ayton, Anai Gonzalez Cordero, Thomas L Edwards, Gladys Ho, Michael Hogden, Anthony Kwan, Tina Lamey, Terri McLaren, Benjamin Nash, Jon Ruddle, Matthew Simunovic, Ingrid Sinnerbrink, Deepa Ajay Taranath, Jen Thompson, Jaclyn White
Published 2021-06-01

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation

by Alison D. Archibald, Belinda J. McClaren, Jade Caruana, Erin Tutty, Emily A. King, Jane L. Halliday, Stephanie Best, Anaita Kanga-Parabia, Bruce H. Bennetts, Corrina C. Cliffe, Evanthia O. Madelli, Gladys Ho, Jan Liebelt, Janet C. Long, Jeffrey Braithwaite, Jillian Kennedy, John Massie, Jon D. Emery, Julie McGaughran, Justine E. Marum, Kirsten Boggs, Kristine Barlow-Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R. Davis, Martin J. Downes, Mathew Wallis, Monica M. Ferrie, Nicholas Pachter, Paul A. Scuffham, Rachael Casella, Richard J. N. Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan P. Walker, Tiffany F. Boughtwood, Tristan Hardy, Ainsley J. Newson, Edwin P. Kirk, Nigel G. Laing, Martin B. Delatycki, The Mackenzie’s Mission Study Team
Published 2022-10-01