BetterScholar BetterScholar
8
Role
Title
Level Year L/R
🐜 Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
66 auth. S. Lunke, Stefanie Eggers, Meredith Wilson, C. Patel, C. Barnett, J. Pinner, S. Sandaradura, M. Buckley, Emma I. Krzesinski, Michelle G. de Silva, Gemma R. Brett, Kirsten Boggs, D. Mowat, E. Kirk, L. Adès, ... Lauren S. Akesson, D. Amor, S. Ayres, A. Baxendale, S. Borrie, A. Bray, N. Brown, C. Chan, B. Chong, C. Cliffe, M. Delatycki, M. Edwards, G. Elakis, M. Fahey, A. Fennell, L. Fowles, L. Gallacher, Megan E. Higgins, K. Howell, L. Hunt, M. Hunter, K. Jones, Sarah King, Smitha Kumble, Sarah Lang, Maelle Le Moing, A. Ma, D. Phelan, M. Quinn, A. Richards, C. Richmond, J. Riseley, Jonathan Rodgers, R. Sachdev, S. Sadedin, L. Schlapbach, Janine M. Smith, A. Springer, Natalie B Tan, T. Tan, S. E. Temple, C. Theda, Anand Vasudevan, S. White, A. Yeung, Ying Zhu, M. Martyn, S. Best, T. Roscioli, J. Christodoulou, Zornitza Stark
7 2020
7
🐜
🐜 Advances in molecular and cellular therapies for hearing loss.
10 auth. M. Hildebrand, S. Newton, S. Gubbels, Abraham M. Sheffield, Amit Kochhar, Michelle G. de Silva, ... H. Dahl, S. Rose, M. Behlke, Richard J. H. Smith
6 2008
6
🐜
🐜 Integrated multi-omics for rapid rare disease diagnosis on a national scale
44 auth. S. Lunke, Sophie E. Bouffler, C. Patel, S. Sandaradura, Meredith Wilson, J. Pinner, M. Hunter, Christopher Barnett, M. Wallis, B. Kamien, T. Tan, M. Freckmann, B. Chong, D. Phelan, David Francis, ... K. Kassahn, Thuong T. Ha, Song Gao, P. Arts, Matilda R Jackson, H. Scott, Stefanie Eggers, Simone M. Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R. Brett, Michelle G. de Silva, A. Springer, Michelle Ward, Kirsty Stallard, Cas Simons, Thomas Conway, A. Halman, Nicole J. Van Bergen, Tim Sikora, Liana N. Semcesen, David Stroud, A. Compton, D. Thorburn, K. Bell, S. Sadedin, K. North, J. Christodoulou, Zornitza Stark
5 2023
5
🐜
🐜 Parental experiences of ultrarapid genomic testing for their critically unwell infants and children
21 auth. Gemma R. Brett, M. Martyn, Fiona Lynch, Michelle G. de Silva, S. Ayres, L. Gallacher, Kirsten Boggs, A. Baxendale, Sarah Schenscher, Sarah L. King-Smith, ... L. Fowles, A. Springer, S. Lunke, Anand Vasudevan, Emma I. Krzesinski, J. Pinner, S. Sandaradura, C. Barnett, C. Patel, Meredith Wilson, Zornitza Stark
5 2020
5
🐜
🐜 Cochlear Implants for DFNA17 Deafness
7 auth. M. Hildebrand, Michelle G. de Silva, R. Gardner, E. Rose, C. D. de Graaf, M. Bahlo, ... H. Dahl
4 2006
4
🐜
🐜 Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice
9 auth. I. Scheffer, C. A. Bennett, D. Gill, Michelle G. de Silva, Kirsten Boggs, J. Marum, ... Naomi L. Baker, E. Palmer, K. Howell
4 2022
4
🐜
🦁 Gene expression changes during step-wise differentiation of embryonic stem cells along the inner ear hair cell pathway
8 auth. Michelle G. de Silva, M. Hildebrand, H. Christopoulos, M. R. Newman, K. Bell, Matthew E. Ritchie, ... G. Smyth, H. Dahl
4 2006
4
🦁
🐜 Molecular characterization of a novel X‐linked syndrome involving developmental delay and deafness
12 auth. M. Hildebrand, Michelle G. de Silva, T. Tan, E. Rose, C. Nishimura, T. Tolmachova, ... J. Hulett, S. White, J. Silver, M. Bahlo, Richard J. H. Smith, H. Dahl
3 2007
3
🐜