G. Ho's Profile

Role	Title	Level	Year	L/R
🐜	The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy 14 auth. S. Fehr, Meredith Wilson, J. Downs, Simon Williams, A. Murgia, S. Sartori, Marilena Vecchi, G. Ho, R. Polli, S. Psoni, ... X. Bao, N. Klerk, H. Leonard, J. Christodoulou	7	2012	7 🐜
🐜	Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms. 18 auth. Thomas A. Forbes, S. Howden, K. Lawlor, B. Phipson, J. Maksimovic, Lorna J. Hale, Sean B. Wilson, C. Quinlan, G. Ho, K. Holman, ... B. Bennetts, J. Crawford, P. Trnka, A. Oshlack, C. Patel, A. Mallett, Cas Simons, M. Little	7	2018	7 🐜
🐬	RettBASE: Rett syndrome database update R. Krishnaraj, G. Ho, J. Christodoulou	7	2017	7 🐬
🐜	Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing 16 auth. A. Ma, J. Grigg, G. Ho, I. Prokudin, E. Farnsworth, K. Holman, Anson Cheng, F. Billson, F. Martin, C. Fraser, ... D. Mowat, James E H Smith, J. Christodoulou, M. Flaherty, B. Bennetts, R. Jamieson	6	2016	6 🐜
🦁	Maternal riboflavin deficiency, resulting in transient neonatal‐onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B 11 auth. G. Ho, A. Yonezawa, S. Masuda, K. Inui, K. Sim, K. Carpenter, ... R. Olsen, John J. Mitchell, W. Rhead, G. Peters, J. Christodoulou	6	2011	6 🦁
🐜	There is variability in the attainment of developmental milestones in the CDKL5 disorder 8 auth. S. Fehr, H. Leonard, G. Ho, Simon Williams, N. de Klerk, D. Forbes, ... J. Christodoulou, J. Downs	6	2015	6 🐜
🐜	Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. 11 auth. A. Mallett, H. McCarthy, G. Ho, K. Holman, E. Farnsworth, C. Patel, ... J. Fletcher, A. Mallawaarachchi, C. Quinlan, B. Bennetts, S. Alexander	6	2017	6 🐜
🐜	Functional abilities in children and adults with the CDKL5 disorder 8 auth. S. Fehr, J. Downs, G. Ho, N. de Klerk, D. Forbes, J. Christodoulou, ... Simon Williams, H. Leonard	6	2016	6 🐜
🐜	Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy 16 auth. K. Kothur, K. Holman, E. Farnsworth, G. Ho, Michelle S Lorentzos, C. Troedson, Sachin Gupta, R. Webster, P. Procopis, M. Menezes, ... J. Antony, S. Ardern–Holmes, Russell C. Dale, J. Christodoulou, D. Gill, B. Bennetts	6	2018	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 Fernández, 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 🐜