Browsing by Author Procopis, Peter

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Issue DateTitleAuthor(s)Citation
2011Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers SyndromeProcopis, Peter; Wilson, Meredith; Brundage, Ellen K.; Compton, Alison; Li, Fang-Yuan; Thorburn, David; Troedson, Chris; Wong, Lee-Jun C.; Yamazaki, Taro; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthApplication of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome, Mitochondrion, vol.11, 1, 2011,pp 104-107
2013Autoantibodies to neuronal antigens in children with new-onset seizures classified according to the revised ILAE organization of seizures and epilepsiesBrilot-Turville, Fabienne; Dale, Russell; Gill, Deepak; Procopis, Peter; Suleiman, Jehan; Lang, Bethan; Nibber, Anjan; Peacock, Kenneth; Vincent, Angela; Waters, Patrick; Wright, Sukvhir; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthAutoantibodies to neuronal antigens in children with new-onset seizures classified according to the revised ILAE organization of seizures and epilepsies, Epilepsia, vol.54, 12, 2013,pp 2091-2100
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
2014A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh SyndromeChristodoulou, John; Procopis, Peter; Wilcken, Bridget; Compton, Alison; Dasvarma, Ayan; et al, Various; Gandolfo, Luke; Lim, Sze Chern; Marum, Justine; McKenzie, Matthew; Peters, Heidi; Smith, Katherine; Stroud, David; Tucker, Elena; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthA Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome, American Journal of Human Genetics, vol.94, 2, 2014,pp 209-222
2015Infectious and Autoantibody-Associated Encephalitis: Clinical Features and Long-term OutcomeBarnes, Elizabeth; Brilot-Turville, Fabienne; Dale, Russell; Merheb, V.; Pillai, Sekhar; Tantsis, Esther; Ardern-Holmes, Simone; et al, Various; Gill, Deepak S; Gupta, Sachin; Hacohen, Yael; Kesson, Alison; Menezes, Manoj; Prelog, Kristina; Procopis, Peter; Troedson, Chris; Webster, Richard; NH&MRC Clinical Trials Centre; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsInfectious and Autoantibody-Associated Encephalitis: Clinical Features and Long-term Outcome, Pediatrics, vol.135, 4, 2015,pp e974-e984
2015Mild encephalopathy with reversible splenial lesion: an important differential of encephalitis.Britton, Philip; Dale, Russell; Jones, Cheryl; Procopis, Peter; Wood, Nicholas James; Buckmaster, Adam; Chua, Yew Wee; Ging, Joanne; Ka, Amy; Troedson, Christopher; Webster, Richard; 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 HealthMild encephalopathy with reversible splenial lesion: an important differential of encephalitis., European Journal of Paediatric Neurology, vol.19, 3, 2015,pp 377-382
2014Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5Bhattacharya, Kaustuv; Procopis, Peter; Aicher, Joseph; Baker, Peter; Creadon-Swindell, Geralyn; et al, Various; Friederich, Marisa; Geiger, Elizabeth; Maclean, K N; Scharer, Gunter; Shaikh, Tamim; Swanson, Michael; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthVariant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5, Brain, vol.137, 2, 2014,pp 366-379