Browsing by Author Farnsworth, Elizabeth

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Issue DateTitleAuthor(s)Citation
2018Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathyArdern-Holmes, Simone; Bennetts, Bruce; Dale, Russell; Gill, Deepak; Ho, Gladys; Kothur, Kavitha; Lorentzos, Michelle; Menezes, Manoj; Procopis, Peter; Webster, Richard; Anthony, Jayne; Christodoulou, John; Farnsworth, Elizabeth; Gupta, Sachin; Holman, katherine; Troedson, Chris; Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Westmead Clinical School: Medicine; 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 HealthDiagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy, Seizure, vol.59, N/A, 2018,pp 132-140
2017Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disordersAlexander, Stephen; Bennetts, Bruce; Mallawaarachchi, Amali; McCarthy, Hugh; Farnsworth, Elizabeth; Fletcher, Jeffery T.; Ho, Gladys; Holman, katherine; Mallett, Andrew; Patel, Chirag; Quinlan, Catherine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthMassively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders, Kidney International, vol.92, 6, 2017,pp 1493-1506
2016Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation SequencingBennetts, Bruce; Billson, Frank; Cheng, Anson; Christodoulou, John; Flaherty, Maree; Fraser, Clare; Grigg, John; Jamieson, Robyn; Ma, Alan; Martin, Frank; Prokudin, Ivan; Farnsworth, Elizabeth; Ho, Gladys; Holman, katherine; Mowat, David; Smith, James; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Clinical Ophthal & Eye Health; Childrens Medical Research Institute (CMRI); Children's Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Medical Research Institute (CMRI)Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation Sequencing, Human Mutation, vol.37, 4, 2016,pp 371-384