Browsing by Author Sandaradura, Sarah

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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
2017Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesBurns, Joshua; Cooper, Sandra; O'Grady, Gina Louise; Sandaradura, Sarah; Schofield, Deborah; Shrestha, Rupendra Narashingh; Alam, Khurshid; Clarke, Nigel; Davis, Mark; Douglas, Lyndal; Laing, Nigel G; MacArthur, Daniel; North, Kathryn N.; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Pharmacy; PharmacyCost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases, n p j Genomic Medicine, vol.2:4, N/A, 2017,pp N/A-N/A
2013Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyClarke, Nigel; Sandaradura, Sarah; Darras, B T; et al, Various; Farrar, Michelle; Gupta, Vandana; Hsu, Cynthia; Ogata, Kazuhiro; Ravenscroft, Gianina; Shaheen, Ranad; Shiina, Masaaki; Swanson, Lindsay; Todd, Emily; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthIdentification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy, American Journal of Human Genetics, vol.93, 6, 2013,pp 1108-1117
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
2014Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyClarke, Nigel; Houweling, Peter; Quinlan (nee Edwards), Kate Gemma; Sandaradura, Sarah; Waddell, Leigh Brook; Yuen, Michaela; Ceyhan-Birsoy, Ozge; Dowling, James; et al, Various; Gokhin, David; Kostyukova, Alla; Lehtokari, Vilma-Lotta; Maluenda, Jérome; Moroz, Natalia; Ravenscroft, Gianina; Todd, Emily; 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; Northern Clinical School: Paediatrics & Child HealthLeiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy, Journal of Clinical Investigation, vol.124, 11, 2014,pp 4693-4708
2014Mutation Update: The Spectra of Nebulin Variants and Associated MyopathiesClarke, Nigel; Sandaradura, Sarah; Barth, Peter G.; Donner, Kati; et al, Various; Frey, Jennifer; Kiiski, Kirsi; Laporte, Jocelyn; Lehtokari, Vilma-Lotta; Marttila, Minttu; Repo, Pauliina; Saunders, Carol; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthMutation Update: The Spectra of Nebulin Variants and Associated Myopathies, Human Mutation, vol.35, 12, 2014,pp 1418-1426
2013Recent advances in nemaline myopathyClarke, Nigel; Sandaradura, Sarah; Romero, Norma; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthRecent advances in nemaline myopathy, Current Opinion In Neurology, vol.26, 5, 2013,pp 519-526
2018Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3Sandaradura, Sarah; Sillence, David; Aarts-Tesselaar, Coranne; Bahlo, Melanie; Cameron-Christie, Sophia; Cassina, Matteo; Cordier, Marie-Pierre; Jenkins, Zandra A.; Ludkig, Kathrin; Markie, D; Robertson, Stephen P.; Simon, Marleen; Takei, Riku; Tang, Candy; Trevisson, Eva; Veenstra-Knol, Hermaine; Wei, Wenhua; Wells, Constance; Wessels, Marja; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthRecessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3, American Journal of Human Genetics, vol.102, 6, 2018,pp 1115-1125