Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi J. Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Anthony J. Peduto, Adam Bournazos, Leigh B. Waddell, Michelle A. Farrar, Hugo A. Sampaio, Hooi Ling Teoh, Phillipa J. Lamont, David Mowat, Robin B. Fitzsimons, Alastair J. CorbettMonique M. Ryan, Gina L. O'Grady, Sarah A. Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L. Marshall, Melinda A. Nolan, Simranpreet Kaur, Jaya Punetha, Ana Toepf, Elizabeth Harris, Madhura Bakshi, Casie A. Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R. Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E. Leach, A. Reghan Foley, Diana Bharucha-Goebel, James Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard I. Webster, Leila Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho-Ming Luk, Neil H. Thomas, Nicola C. Foulds, Marjorie A. Illingworth, Sian Ellard, Catriona A. McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik-Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, Carsten G. Boennemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. Laing

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

Research output: Contribution to journal › Article › peer-review

98 Citations (Scopus)

5 results

Finished

Preparing Australia for Genomic Medicine - A proposal by the Australian Genomics Health Alliance
Laing, N. (Investigator 01)
Medical Research Future Fund MRFF
1/10/18 → 31/12/22
Project: Research
Improving outcomes for individuals and families affected by genetic disease
Laing, N. (Investigator 01)
NHMRC National Health and Medical Research Council
1/01/17 → 31/12/21
Project: Research
Gene discovery and pathobiology in muscle diseases
Ravenscroft, G. (Investigator 01)
NHMRC National Health and Medical Research Council
1/01/17 → 31/07/22
Project: Research
Neuromuscular Disorders: Gene Discovery And Disease Mechanism
Laing, N. (Investigator 01), Nowak, K. (Investigator 02), North, K. (Investigator 03) & Clarke, N. (Investigator 04)
NHMRC National Health and Medical Research Council
1/01/12 → 31/12/14
Project: Research
Centre for Research Excellence in Neuromuscular Disorders
Laing, N. (Investigator 01), North, K. (Investigator 02), Burns, J. (Investigator 03), Ryan, M. (Investigator 04), Clarke, N. (Investigator 05), Corbett, A. (Investigator 06), Refshauge, K. (Investigator 07), Buckley, M. (Investigator 08) & McLean, C. (Investigator 09)
NHMRC National Health and Medical Research Council
1/01/12 → 31/12/16
Project: Research

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Projects

Search results

Preparing Australia for Genomic Medicine - A proposal by the Australian Genomics Health Alliance

Improving outcomes for individuals and families affected by genetic disease

Gene discovery and pathobiology in muscle diseases

Neuromuscular Disorders: Gene Discovery And Disease Mechanism

Centre for Research Excellence in Neuromuscular Disorders