Browsing by Author Davis, Mark

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 10 of 10
Issue DateTitleAuthor(s)Citation
2017Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesBurns, Joshua; Cooper, Sandra; O'Grady, Gina Louise; Sandaradura, Sarah; Schofield, Deborah; Shrestha, Rupendra Narashingh; Alam, Khurshid; Clarke, Nigel; Davis, Mark; Douglas, Lyndal; Laing, Nigel G; MacArthur, Daniel; North, Kathryn N.; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Pharmacy; PharmacyCost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases, n p j Genomic Medicine, vol.2:4, N/A, 2017,pp N/A-N/A
2003Effects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotypeBennetts, Bruce; Christodoulou, John; Ellaway, Carolyn; Weaving, Linda; Davis, Mark; Delatycki, Martin; Laing, Nigel G.; Leonard, Helen; Thompson, Elizabeth M.; Thong, Meow-Keong; Williamson, Sarah L; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthEffects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotype, American Journal of Medical Genetics Part A, vol.118A,(N/A),2003,pp 103-114
2015Expanding the phenotype of GMPPB mutationsClarke, Nigel; Corbett, Alastair; Ghaoui, Roula; Lek, Monkol; Reddel, Stephen; Sue, Carolyn; Waddell, Leigh Brook; Cabrera-Serrano, Macarena; Davis, Mark; Johnsen, Russell D; Kaur, Simranpreet; Laing, Nigel G; Lamont, Phillipa J.; Liang, Christina; MacArthur, Daniel; North, Kathryn N; Ravenscroft, Gianina; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthExpanding the phenotype of GMPPB mutations, Brain, vol.138, Pt 4, 2015,pp 836-844
2005Health service use in Rett syndrome.Christodoulou, John; Weaving, Linda; Colvin, Lyn; Davis, Mark; de Klerk, Nick; Fyfe, Susan; Leonard, Helen; Moore, Hannah; Mulroy, Seonaid; Robertson, ID; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthHealth service use in Rett syndrome., Journal of child neurology, vol.20,(1),2005,pp 42-50
2016Individual heritable differences result in unique cell lymphocyte receptor repertoires of naive and antigen-experienced cellsMcGuire, Helen; Bolen, Christopher R.; Cowell, Lindsay G; Davis, Mark; Dekker, Cornelia; Euskirchen, Ghia; Gadala-Maria, Daniel; Kleinstein, Steven H; Levin, Mikhail; Mamedov, Murad R.; Rubelt, Florian; Swan, Gary E.; Vander Heiden, Jason; Central Clinical School: MedicineIndividual heritable differences result in unique cell lymphocyte receptor repertoires of naive and antigen-experienced cells, Nature Communications, vol.7, N/A, 2016,pp 1-12
2016Individual heritable differences result in unique cell lymphocyte receptor repertoires of naive and antigen-experienced cellsMcGuire, Helen; Bolen, Christopher R.; Cowell, Lindsay G; Davis, Mark; Dekker, Cornelia; Euskirchen, Ghia; Gadala-Maria, Daniel; Kleinstein, Steven H; Levin, Mikhail; Mamedov, Murad R.; Rubelt, Florian; Swan, Gary E.; Vander Heiden, Jason; Central Clinical School: MedicineIndividual heritable differences result in unique cell lymphocyte receptor repertoires of naive and antigen-experienced cells, Nature Communications, vol.7, N/A, 2016,pp 1-12
2003Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?Christodoulou, John; Clarke, A.; Colvin, Lyn; Davis, Mark; de Klerk, Nicholas H.; Fyfe, Susan; Hackwell, S.; Kondo, I.; Leonard, H.; Matsuishi, T.; Ravine, D.; Schiavello, T.; Williamson, Sarah L; Yamashita, Y.; Children's Hospital Westmead: Paediatrics & Child HealthPatients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?, Journal of Medical Genetics, vol.40,(e52),2003,pp 1-7
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
2015Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedClarke, Nigel; Cooper, Sandra; Corbett, Alastair; Ghaoui, Roula; Jones, Kristi; Kaur, Simranpreet; Nicholson, Garth; O'Grady, Gina Louise; Sue, Carolyn; Waddell, Leigh Brook; Davis, Mark; Laing, Nigel; Lek, Monkol; Liang, Christina; MacArthur, Daniel; Needham, Merrilee; North, Kathryn; Ong, Royston; Reddel, Stephen; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthUse of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned, JAMA Neurology, vol.72, 12, 2015,pp 1424-1432
2011Using entrustable professional activities to guide curriculum development in psychiatry trainingBoyce, Philip; Davis, Mark; McEvoy, Prue; Spratt, Christine; Western Clinical School: Psychological MedicineUsing entrustable professional activities to guide curriculum development in psychiatry training, BMC Medical Education, vol.11, 1, 2011,pp 1-8