BetterScholar BetterScholar
8
Role
Title
Level Year L/R
🐜 Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome
10 auth. J. Gibson, Rachel Fieldhouse, M. Chan, O. Sadeghi-Alavijeh, L. Burnett, V. Izzi, ... Anton V. Persikov, D. Gale, H. Storey, J. Savige
6 2021
6
🐜
🐜 Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
216 auth. A. Bournazos, L. Riley, Shobhana Bommireddipalli, L. Adès, Lauren S. Akesson, M. Al-shinnag, Stephen I. Alexander, A. Archibald, S. Balasubramaniam, Y. Berman, V. Beshay, Kirsten Boggs, J. Bojadzieva, N. Brown, S. Bryen, ... M. Buckley, B. Chong, M. Davis, R. Dawes, M. Delatycki, Liz Donaldson, Lilian Downie, Caitlin Edwards, M. Edwards, Amanda Engel, Lisa J Ewans, Fathimath Faiz, A. Fennell, M. Field, M. Freckmann, L. Gallacher, Russell Gear, H. Goel, Shuxiang Goh, L. Goodwin, B. Hanna, J. Harraway, Megan E. Higgins, G. Ho, Bruce Hopper, A. Horton, M. Hunter, A. Huq, S. Josephi-Taylor, H. Joshi, E. Kirk, Emma I. Krzesinski, K. Kumar, F. Lemckert, R. Leventer, S. Lindsey-Temple, S. Lunke, A. Ma, S. Macaskill, A. Mallawaarachchi, M. Marty, J. Marum, H. McCarthy, M. Menezes, Alison McLean, D. Milnes, S. Mohammad, D. Mowat, A. Niaz, E. Palmer, C. Patel, Shilpan G. Patel, D. Phelan, J. Pinner, S. Rajagopalan, M. Regan, Jonathan Rodgers, Miriam J. Rodrigues, R. Roxburgh, R. Sachdev, T. Roscioli, Ruvishani Samarasekera, S. Sandaradura, E. Savva, Timo Schindler, Margi Shah, I. Sinnerbrink, Janine M. Smith, Richard Smith, A. Springer, Zornitza Stark, Samuel P. Strom, C. Sue, Kenneth Tan, T. Tan, E. Tantsis, M. Tchan, B. Thompson, A. Trainer, Karin van Spaendonck-Zwarts, Rebecca C. Walsh, L. Warwick, Stephanie L. White, S. White, Mark Williams, Meredith Wilson, W. Wong, D. Wright, Patrick Yap, A. Yeung, H. Young, K. Jones, B. Bennetts, Sandra T. Cooper, Ghusoon Abdulrasool, Ghamdan Al Eryani, P. Arts, R. Bagnall, Naomi L. Baker, Christopher Barnett, S. Beecroft, M. Berbic, Michaela Black, J. Blackburn, P. Blombery, S. Branford, J. Breen, L. Burnett, D. Canson, P. Cheong, E. Chew, J. Christodoulou, S. Chung, Mike Clark, C. Cliffe, Melissa K Cole, F. Collins, A. Compton, A. Cooper, M. Corbett, M. Cowley, T. Dudding, Stefanie Eggers, E. Eyras, Miriam Fanjul FernÑndez, A. Fellowes, R. Fleischer, C. Folland, L. Fox, C. Gaff, Melanie A. Galea, R. Ghaoui, Ilias Gornanitis, Thuong T. Ha, R. Hayashi, I. Hayes, A. Henderson, L. Hesson, Erin E. Heyer, Michael Hildebrand, M. Hipwell, C. Hoskins, Matilda R Jackson, Paul James, J. Wong, K. Kassahn, P. Kaub, L. Kevin, Smitha Kumble, S. Kummerfeld, N. Laing, C. Lau, Eric Lee, Sarah Leighton, Ben Lundie, Chelsea Mayoh, J. McGaughran, M. McPhillips, C. Meldrum, E. Middleton, K. Mina, A. Nisselle, E. Oates, A. Oshlack, G. Parasivam, M. Parsons, M. Quinn, J. Rasko, G. Ravenscroft, A. Ravine, Krista Recsei, J. Rehn, S. Robertson, A. Ronan, G. Ryland, S. Sadedin, A. Schreiber, Hamish Scott, R. Scott, C. Semsarian, Cas Simons, E. Singer, Renée Smyth, A. Spurdle, Patricia Sullivan, S. Sundercombe, D. Thorburn, J. Toubia, R. Trent, Emma Tudini, Irina Voneague, L. Waddell, L. Walker, M. Wallis, N. Warnock, Robert J. Weatheritt, D. White, I. Winship, L. Worgan, Kathy Wu, A. Ziolowski
5 2021
5
🐜
🐜 The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in australian Ashkenazi Jews
8 auth. Anita Y. Bahar, P. Taylor, L. Andrews, A. Proos, L. Burnett, Katherine M. Tucker, ... M. Friedlander, M. Buckley
5 2001
5
🐜
🐜 ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
13 auth. A. Minoche, B. Lundie, G. Peters, T. Ohnesorg, M. Pinese, D. Thomas, A. Zankl, T. Roscioli, N. Schonrock, S. Kummerfeld, ... L. Burnett, M. Dinger, M. Cowley
5 2020
5
🐜
🐜 Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
20 auth. A. Mallawaarachchi, B. Lundie, Y. Hort, N. Schonrock, Sarah R. Senum, V. Gayevskiy, A. Minoche, G. Hollway, T. Ohnesorg, Marcus J Hinchcliffe, ... C. Patel, M. Tchan, A. Mallett, M. Dinger, G. Rangan, M. Cowley, P. Harris, L. Burnett, J. Shine, T. Furlong
5 2021
5
🐜
🐜 Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis.
7 auth. P. Dai, Andrew Honda, Lisa J Ewans, J. McGaughran, L. Burnett, M. Law, ... T. Phan
5 2022
5
🐜
🐜 The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation
46 auth. A. Archibald, B. McClaren, J. Caruana, E. Tutty, Emily King, J. Halliday, S. Best, A. Kanga-Parabia, B. Bennetts, C. Cliffe, Evanthia O Madelli, G. Ho, J. Liebelt, Janet C. Long, J. Braithwaite, ... J. Kennedy, J. Massie, Jon D. Emery, J. McGaughran, J. Marum, Kirsten Boggs, K. Barlow-Stewart, L. Burnett, Lisa Dive, Lucinda Freeman, M. Davis, M. Downes, M. Wallis, Monica M Ferrie, N. Pachter, P. Scuffham, R. Casella, R. Allcock, R. Ong, S. Edwards, S. Righetti, S. Lunke, S. Lewis, Susan P Walker, Tiffany F. Boughtwood, T. Hardy, A. Newson, E. Kirk, N. Laing, M. Delatycki, The Mackenzie's Mission Study Team
4 2022
4
🐜
🐜 Beyond the panel: preconception screening in consanguineous couples using the TruSight One β€œclinical exome”
15 auth. E. Kirk, K. Barlow-Stewart, Arthavan Selvanathan, S. Josephi-Taylor, L. Worgan, S. Rajagopalan, M. Cowley, V. Gayevskiy, A. Bittles, L. Burnett, ... G. Elakis, William Lo, M. Buckley, A. Colley, T. Roscioli
4 2018
4
🐜