Browsing by Author Gold, Wendy

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Showing results 1 to 11 of 11
Issue DateTitleAuthor(s)Citation
2017Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunctionBhattacharya, Kaustuv; Christodoulou, John; Gold, Wendy; Nafisinia, Michael; Riley, Lisa; Broderick, Carolyn; Simons, Cas; Thorburn, David; 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 HealthCompound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction, PloS One, vol.12, 6, 2017,pp 1-12
2015MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitorsCantrill, Laurence; Christodoulou, John; Gold, Wendy; Lacina, T A; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthMeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors, Journal of Molecular Medicine, vol.93, 1, 2015,pp 63-72
2014Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotypeChristodoulou, John; Gold, Wendy; Tam, Patrick; Hargreaves, Iain; Kaur, Sukhdeep; Land, John; Pelka, Gregory; Williamson, Sarah L; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsMitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotype, Mitochondrion, vol.15, N/A, 2014,pp 10-17
2017Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher diseaseChristodoulou, John; Gold, Wendy; Nafisinia, Michael; Ouvrier, Robert; Riley, Lisa; Boehm, Corinne; Prelog, Kristina; Sobreira, Nara; Uhlenberg, Birgit; Weib, Claudia; 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 RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease, European Journal of Human Genetics, vol.25, 10, 2017,pp 1134-1141
2017A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunctionAdes, Lesley; Christodoulou, John; Gold, Wendy; Riley, Lisa; Franzka, Patricia; Hubner, Christian A.; Marbaix, Alexandre; Sobreira, Nara; Van Schaftingen, Emile; Wiame, Elsa; Worgan, Lisa; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthA novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction, American Journal of Medical Genetics, Part A, vol.173, 8, 2017,pp 2246-2250
2012A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brainChristodoulou, John; Tam, Patrick; Giudici, Laura; Gold, Wendy; Grimm, Andrew; Kilstrup-Nielsen, Charlotte; Landsberger, Nicoletta; Pelka, Gregory J; Prodi, Dionigio; Williamson, Sarah L; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsA novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain, Human Genetics, vol.131, 2, 2012,pp 187-200
2014Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2Al-Odaib, Ahmad; Burns, Joshua; Carpenter, Kevin; Christodoulou, John; Gold, Wendy; Lek, Monkol; Menezes, Manoj; Ouvrier, Robert; Wang, Min-Xia; Zuchner, Stephen; Abrams, Alexander; Antony, Jayne; Baxter, Peter; Brandner, Sebastian; Broomfield, Alexander; Clayton, P.; Farrell, Michael; Foley, A Reghan; Forman, Eva; Gonzalez, Michael; Hargreaves, Iain; Horvath, Rita; Houlden, Henry; Hughes, Imelda; Jungbluth, Heinz; King, Mary D.; Land, John; Lim, Ming; Lin, Jean-Pierre; Manzur, Adnan; Mathew, Ann; Matsubara, Kazuo; McCullagh, B. Gary; McGarvey, Michael; Megarbane, Andre; Muntoni, Francesco; Ng, Joanne; O’Byrne, James; O'Brien, Katherine; Olpin, Simon; Oppenheim, Marcus; Pandraud, Amelie; Phadke, Rahul; Prasad, Manish; Rahman, Shamima; Reilly, Mary; Scherer, Steven; Scoto, Mariacristina; Shah, Ayaz; Straub, Volker; Sugano, Kumiko; Urtizberea, Jon Andoni; Webster, Richard; Yonezawa, Atsushi; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Children's Hospital Westmead: 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; Central Clinical School: MedicineTreatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2, Brain, vol.137, Pt 1, 2014,pp 44-56
2015The utility of next-generation sequencing in gene discovery for mutation-negative patients with Rett syndromeChristodoulou, John; Gold, Wendy; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthThe utility of next-generation sequencing in gene discovery for mutation-negative patients with Rett syndrome, Frontiers in Cellular Neuroscience, vol.9, N/A, 2015,pp 1-6
2016Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disordersAdes, Lesley; Alodaib, Ahmed; Christodoulou, John; Gold, Wendy; Barbaro, P.; Guo, Yiran; Hakonarson, Hákon H.; Keating, Brendan; Li, Jiankang; Teo, Juliana; Xu, Xun; Zhang, Jianguo; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthUtility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders, Clinical Genetics, vol.89, 2, 2016,pp 163-172
2017Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial DisorderChristodoulou, John; Gold, Wendy; Nafisinia, Michael; Riley, Lisa; Chen, Yulan; Dang, Xiao; Guo, Yiran; Hakonarson, Hakon; Keating, Brendan; Lake, Nicole; Li, Jiankang; Thornburn, David; Xu, Xun; Zhang, Jianguo; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthWhole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder, JIMD Reports, vol.32, N/A, 2017,pp 117-124
2017Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem diseaseAlodaib, A; Bennetts, Bruce; Christodoulou, John; Gold, Wendy; Riley, Lisa; Wilson, Meredith; Boehm, Corinne; Sobreira, Nara; Thorburn, David; Van Bergen, Nicole J.; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Veterinary Science; Childrens Hospital Westmead: Paediatrics & Child HealthWhole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease, European Journal of Human Genetics, vol.25, 1, 2017,pp 79-84