Browsing by Author Oates, Emily

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Issue DateTitleAuthor(s)Citation
2012Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cellsClarke, Nigel; Hawke, Simon; North, Kathryn; Oates, Emily; Reddel, Stephen; Bahlo, Melanie; Gandolfo, Luke; Lamande, Shireen R.; Rodriguez, Michael L.; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: ANZAC Research InstituteAutosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells, Brain: a journal of neurology, vol.135, 6, 2012,pp 1714-1723
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
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
2014Longitudinal assessment of cognition and T2-hyperintensities in NF1: An 18-year studyNorth, Kathryn; Oates, Emily; Payne, Jonathan; Pickering, Tania; Porter, Melanie; Prelog, Kristina; Walia, Navdeep; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthLongitudinal assessment of cognition and T2-hyperintensities in NF1: An 18-year study, American Journal of Medical Genetics. Part A, vol.164A, 3, 2014,pp 661-665
2016Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathyOates, Emily; Blom, Eveline; et al, Various; Gabbett, Michael T; Hendson, Glenda; Rasmussen, Magnhild; Ravenscroft, Gianina; Thor, Michael G; van Karnebeek, Clara; Whitting, Nanna; Zaharieva, Irina T; Childrens Hospital Westmead: Paediatrics & Child HealthLoss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy, Brain, vol.139, 3, 2016,pp 674-691
2013Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic ParaplegiaClarke, Nigel; Menezes, Manoj; Oates, Emily; Auer-Grumbach, Michaela; Cottenie, Ellen; et al, Various; Foley, A Reghan; Gonzalez, Michael; Greensmith, Linda; Hafezparast, Majid; Houlden, Henry; Hurles, Matthew; Lek, Monkol; MacArthur, Daniel; Pieber, Thomas R; Rossor, Alexander; Scoto, Mariacristina; Speziani, Fiorella; Strom, Tim M; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia, American Journal of Human Genetics, vol.92, 6, 2013,pp 965-973
2013Neuromuscular junction abnormalities in DNM2-related centronuclear myopathyClarke, Nigel; Oates, Emily; Rose, Kristy; Webster, Richard; Dowling, James; Feldman, Eva; Gibbs, Elizabeth; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child HealthNeuromuscular junction abnormalities in DNM2-related centronuclear myopathy, Journal of Molecular Medicine (online), vol.91, 6, 2013,pp 727-737
2015Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Clarke, Nigel; Menezes, Manoj; North, Kathryn; Oates, Emily; Rodriguez, Michael; et al, Various; Gonzalez, Michael; Houlden, Henry; Liu, Yang; Murphy, Sinead; Phadke, Rahul; Rossor, Alexander; Salter, Hannah; Schule, Rebecca; Scoto, Mariacristina; Sewry, Caroline A; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; AnaesthesiaPhenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2, Brain, vol.138, 2, 2015,pp 293-310
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
2013Young Australian Adults With NF1 Have Poor Access to Health Care, High Complication Rates, and Limited Disease KnowledgeClarke, Nigel; Foster, Sheryl; North, Kathryn; Oates, Emily; Payne, Jonathan; Children's Hospital Westmead: Paediatrics & Child Health; Medical Radiation Sciences; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthYoung Australian Adults With NF1 Have Poor Access to Health Care, High Complication Rates, and Limited Disease Knowledge, American Journal of Medical Genetics. Part A, vol.161, 4, 2013,pp 659-666