Browsing by Author Riley, Lisa

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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
2009A Functional Genomics approach to evaluate Candidate Genes located in a QTL interval for Milk production Traits on BTA6Raadsma, Hermanus; Riley, Lisa; Sheehy, Paul; Williamson, Peter; Wynn, Peter; REPROGEN; Vet Science Faculty; Vet Science Faculty; Vet Science Faculty; Animal ScienceA Functional Genomics approach to evaluate Candidate Genes located in a QTL interval for Milk production Traits on BTA6, Animal Genetics, vol.40,(4),2009,pp 492-498
2010The influence of extracellular matrix and prolactin on global gene expression profiles of primary bovine mammary epithelial cells in vitroRaadsma, Hermanus (Herman); Riley, Lisa; Sheehy, Paul; Thomson, Peter; Williamson, Peter; Wynn, Peter; Gardiner-Garden, Margaret; REPROGEN; Vet Science Faculty; Vet Science Faculty; Vet Science Faculty; Vet Science Faculty; Animal ScienceThe influence of extracellular matrix and prolactin on global gene expression profiles of primary bovine mammary epithelial cells in vitro, Animal Genetics, vol.41, 1, 2010,pp 55-63
2014The influence of protein fractions from bovine colostrum digested in vivo and in vitro on human intestinal epithelial cell proliferationMorgan, Alison; Riley, Lisa; Sheehy, Paul; Wynn, Peter; Vet Science Faculty; Vet Science Faculty; Vet Science Faculty; Animal ScienceThe influence of protein fractions from bovine colostrum digested in vivo and in vitro on human intestinal epithelial cell proliferation, Journal of Dairy Research, vol.81, 1, 2014,pp 73-81
2016Insights into Facebook Pages: An early adolescent health research study page targeted at parentsAmon, Krestina; Hawke, Catherine; Paxton, Karen; Riley, Lisa; Steinbeck, Katharine (Kate); Klineberg, Emily; Behavioural and Social Sciences in Health; School of Rural Health: Orange; School of Rural Health: Orange; School of Rural Health; Childrens Hospital Westmead: Paediatrics & Child HealthInsights into Facebook Pages: An early adolescent health research study page targeted at parents, International Journal of Adolescent Medicine and Health, vol.28, 1, 2016,pp 69-77
2006Lactational performance of Quackenbush Swiss line 5 miceHolt, Marte; Riley, Lisa; Sheehy, Paul; Thomson, Peter; Wynn, Peter; Xavier, Stephanie; Zubair, M; REPROGEN; Vet Science Faculty; Vet Science Faculty; Vet Science Faculty; Animal Science; Vet Science Faculty; REPROGENLactational performance of Quackenbush Swiss line 5 mice, Journal of Animal Science, vol.84,(8),2006,pp 2118-2125
2008Lactoferrin decreases primary bovine mammary epithelial cell viability and casein expressionRiley, Lisa; Sheehy, Paul; Williamson, Peter; Wynn, Peter; Vet Science Faculty; Vet Science Faculty; Vet Science Faculty; Animal ScienceLactoferrin decreases primary bovine mammary epithelial cell viability and casein expression, Journal of Dairy Research, vol.75, N/A, 2008,pp 135-141
2016MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderChristodoulou, John; Riley, Lisa; Balasubramaniam, Shanti; et al, Various; Eyal, Eran; Heimer, Gaili; Hiltunen, J. Kalervo; Keratar, Juha; Marek-Yagel, Dina; Pietikainen, Laura; Childrens Hospital Westmead: Paediatrics & Child Health; Vet Science FacultyMECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder, American Journal of Human Genetics, vol.99, 6, 2016,pp 1229-1244
2016MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderChristodoulou, John; Riley, Lisa; Balasubramaniam, Shanti; et al, Various; Eyal, Eran; Heimer, Gaili; Hiltunen, J. Kalervo; Keratar, Juha; Marek-Yagel, Dina; Pietikainen, Laura; Childrens Hospital Westmead: Paediatrics & Child Health; Vet Science FacultyMECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder, American Journal of Human Genetics, vol.99, 6, 2016,pp 1229-1244
2015Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaAlexander, Stephen; Christodoulou, John; Cooper, Sandra; Davis, Ryan; Menezes, Minal; Riley, Lisa; Sue, Carolyn; Arbuckle, Susan; Dong, Daoyuan; Glessner, Joseph; Guo, Yiran; Hakonarson, Haron; Keating, Brendan; Kirwan, Paul; Li, Jiankang; Li, Zhijun; Thorburn, David; Xu, Xun; Zhang, Jianguo; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Kolling Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Vet Science Faculty; Northern Clinical School: MedicineMutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia, Human Molecular Genetics, vol.24, 8, 2015,pp 2297-2307
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
2013Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemiaChristodoulou, John; Cooper, Sandra; Menezes, Minal; Riley, Lisa; Tchan, Michel; Davis, Mark; de Lonlay, Pascale; Duff, Rachael; Rotig, Agnes; Rudinger-Thirion, Joelle; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Vet Science Faculty; Western Clinical School: Medicine (Westmead)Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia, Orphanet Journal of Rare Diseases, vol.8, 1, 2013,pp 1-11
2017Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 casesBalasubramaniam, Shanti; Christodoulou, John; Riley, Lisa; Alhaddad, Bader; Al-Owain, Mohammed A; AlSayed, Moeenaldeen; Al-Zaidan, Hamad I; Baric, I.; Bubshait, Dalal K; Burlina, Alberto; et al, Various; Iwanicka-Pronicka, Katarzyna; Kalkan Ucar, Sema; Maas, Roeltje R; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthProgressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases, Annals of Neurology, vol.82, 6, 2017,pp 1004-1015
2006A radioassay for synaptic core complex assembly: Screening of herbal extracts for effectorsLi, Qian (George); Riley, Lisa; Roufogalis, Basil; Weiss, Anthony; Pharmacy; Vet Science Faculty; Pharmacy; Molecular & Microbial BioscienA radioassay for synaptic core complex assembly: Screening of herbal extracts for effectors, Analytical Biochemistry, vol.357,(1),2006,pp 50-57
2014Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patientChristodoulou, John; Cooper, Sandra; Menezes, Minal; Riley, Lisa; Grimmond, Sean Michael; Miller, David K; Simons, Cas; Taft, Ryan J; Thorburn, David R.; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Vet Science FacultyRapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient, PloS One, vol.9, 8, 2014,pp 1-6
2008The Role of Native Bovine a-lactalbumin in Bovine Mammary Epithelial Cell Apoptosis and Casein ExpressionRiley, Lisa; Sheehy, Paul; Williamson, Peter; Wynn, Peter; Vet Science Faculty; Vet Science Faculty; Vet Science Faculty; Animal ScienceThe Role of Native Bovine a-lactalbumin in Bovine Mammary Epithelial Cell Apoptosis and Casein Expression, Journal of Dairy Research, vol.75, N/A, 2008,pp 319-325
2017A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disordersBalasubramaniam, Shanti; Christodoulou, John; Riley, Lisa; Sue, Carolyn; Bahlo, Melanie; Cowley, Mark; Gayevskiy, Velimir; Prelog, Kristina; Roscioli, T; Thorburn, David; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: MedicineA SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders, Journal of Inherited Metabolic Disease, vol.40, 2, 2017,pp 261-269
2017Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiencyBalasubramaniam, Shanti; Christodoulou, John; Riley, Lisa; Bratkovic, D; Cowley, Mark; Gardeitchik, T; Gayevskiy, Velimir; Ketteridge, D; Manton, N; Mohamed, M; Morava, E; Roscioli, Tony; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthUnique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency, Journal of Inherited Metabolic Disease, vol.40, 5, 2017,pp 745-747
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