Browsing by Author Bournazos, Adam

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Issue DateTitleAuthor(s)Citation
2018Congenital titinopathy: Comprehensive characterisation and pathogenic insightsBournazos, Adam; Charlton, Amanda; Clarke, Nigel; Cooper, Sandra; Fitzsimons, Robin; Ghaoui, Roula; Jones, Kristi; Oates, Emily; O'Grady, Gina Louise; Peduto, Anthony; Sandaradura, Sarah; Waddell, Leigh Brook; Brammah, Susan; Donkervoort, Sandra; et al, Various; Farrar, Michelle A.; Sampaio, Hugo; Smith III, John; Swanson, Lindsay; Ware, James; Whiffin, Nicola; Yau, Kyle; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Westmead Clinical School: Imaging; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthCongenital titinopathy: Comprehensive characterisation and pathogenic insights, Annals of Neurology, vol.83, 6, 2018,pp 1106-1124
2017Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signallingCooper, Sandra; Piper, Ann-Katrin; Woolger, Natalie; Bournazos, Adam; Greer, Peter; Lemckert, F; Redpath, G; Ross, Samuel E; Sutton, Roger; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Westmead Institute for Medical ResEnzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling, Cellular Signalling, vol.33, N/A, 2017,pp 30-40
2017Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBournazos, Adam; Clarke, Nigel; Cooper, Sandra; Ghaoui, Roula; Lek, Monkol; Oates, Emily; O'Grady, Gina Louise; Sandaradura, Sarah; Waddell, Leigh Brook; Bolduc, Veronique; Cummings, Beryl; Donkervoort, Sandra; Estrella, Elicia; et al, Various; Foley, A Reghan; Marshall, J; North, Kathryn N.; Reddy, H; Tukiainen, Taru; Zhao, F; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthImproving genetic diagnosis in Mendelian disease with transcriptome sequencing, Science Translational Medicine, vol.9, 386, 2017,pp 1-11
2016Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factorCeely, B; Cooper, Sandra; Egan, Jonathan Roger; North, Kathryn; Winlaw, David; Bournazos, Adam; Butler, Tanya; Eckert, Daniel; Hawkes, Joanne; Kenzler, Manuel; Lemckert, Frances; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthLack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor, Cardiovascular Research, vol.110, 2, 2016,pp 178-187
2016Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factorCeely, B; Cooper, Sandra; Egan, Jonathan Roger; North, Kathryn; Winlaw, David; Bournazos, Adam; Butler, Tanya; Eckert, Daniel; Hawkes, Joanne; Kenzler, Manuel; Lemckert, Frances; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthLack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor, Cardiovascular Research, vol.110, 2, 2016,pp 178-187
2017Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344PBournazos, Adam; Cooper, Sandra; Driemer, Birgit; Evesson, Frances Jane; Lek, Angela; Sophocleous, Reece; Woolger, Natalie; Sutton, Bryan; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Westmead Clinical School: Westmead Institute for Medical ResLimited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P, Journal of Biological Chemistry, vol.292, 45, 2017,pp 18577-18591