Browsing by Author O'Grady, Gina Louise

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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
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
2015Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBrilot-Turville, Fabienne; Christodoulou, John; Clarke, Nigel; North, Kathryn; O'Grady, Gina Louise; Sillence, David; Waddell, Leigh Brook; et al, Various; Howard, M; Ilkovski, Biljana; Kinoshita, Taroh; Knight, Samantha J.L.; Lek, M; Pagnamenta, Alistair T.; Popitsch, Niko; Thomas, Brett; Turner, Anne Marie; 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 HealthMutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies, Human Molecular Genetics, vol.24, 21, 2015,pp 6146-6159
2016Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseClarke, Nigel; Ghaoui, Roula; Lek, Monkol; Ma, Alan; Menezes, Manoj; O'Grady, Gina Louise; MacArthur, Daniel; Needham, Merrilee; North, Kathryn N; Peduto, Anthony J.; Sival, Deborah; van Ravenswaaij-Arts, Conny MA; Waddell, Leigh; Wong, Monica TY; Young, Helen; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthProminent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease, European Journal of Human Genetics, vol.24, 8, 2016,pp 1216-1219
2015Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spineBest, Heather; Clarke, Nigel; Ilkovski, B; North, Kathryn; Oates, Emily; O'Grady, Gina Louise; Brammah, Susan; Charlton, Amanda; Hoffman, Eric P; Kaur, Simranpreet; Kesari, Akanchha; Punetha, Jaya; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthRecessive ACTA1 variant causes congenital muscular dystrophy with rigid spine, European Journal of Human Genetics, vol.23, 6, 2015,pp 883-886
2015Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedClarke, Nigel; Cooper, Sandra; Corbett, Alastair; Ghaoui, Roula; Jones, Kristi; Kaur, Simranpreet; Nicholson, Garth; O'Grady, Gina Louise; Sue, Carolyn; Waddell, Leigh Brook; Davis, Mark; Laing, Nigel; Lek, Monkol; Liang, Christina; MacArthur, Daniel; Needham, Merrilee; North, Kathryn; Ong, Royston; Reddel, Stephen; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthUse of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned, JAMA Neurology, vol.72, 12, 2015,pp 1424-1432
2016Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeBest, Heather; Clarke, Nigel; Cooper, Sandra; Menezes, Manoj; North, Kathryn; O'Grady, Gina Louise; Benavides Damm, Tatiana; Engel, Andrew; Fock, Johanna; Kamsteeg, Erik-Jan; Lek, Monkol; MacArthur, Daniel; Pride, Natalie; Turner, Christian; Verschuuren, Corien; Webster, Richard; Yuen, Michaela; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthVariants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome, Neurology, vol.87, 14, 2016,pp 1442-1448