Browsing by Author Waddell, Leigh

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Issue DateTitleAuthor(s)Citation
2009Cap disease due to mutation of the beta-tropomyosin gene (TPM2)Clarke, Nigel; Domazetovska, Ana; North, Kathryn; Waddell, Leigh; Kornberg, Andrew J.; McLean, Catriona A.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthCap disease due to mutation of the beta-tropomyosin gene (TPM2), Neuromuscular Disorders, vol.19, 5,pp 348-351
2012Diagnosis of the Muscular DystrophiesClarke, Nigel; Cooper, Sandra; Evesson, Frances; North, Kathryn; Waddell, Leigh; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthDiagnosis of the Muscular Dystrophies in Muscular Dystrophy, InTech Publishers, 2012, pp. 261-288
2011Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With StretchClarke, Nigel; Cooper, Sandra; Evesson, Frances; Hawkes, Joanne; Lek, Angela; Lemckert, Frances; North, Kathryn; Tran, Jenny; Waddell, Leigh; Zheng, Xi; Ackerman, Michael; Landstrom, Andrew; Lin, Peihui; Ma, Jianjie; Street, Neil; Weisleder, Noah; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; 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 Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthDysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch, Journal of Neuropathology and Experimental Neurology, vol.70, 4, 2011,pp 302-313
2012Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5Clarke, Nigel; Waddell, Leigh; Barboi, A; Evila, A; Hackman, P; Muelas Gomez, N; Palmio, J; Penttila, S; Raheem, O; Suominen, T; Tasca, G; Udd, B; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthEight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5, Neurology, vol.78, 12, 2012,pp 897-903
2010Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3Clarke, Nigel; North, Kathryn; Waddell, Leigh; Kennedy, Paul; Kornberg, Andrew J.; Kreissl, Michaela; Labarre-Vila, Annick; McLean, Catriona A.; Monnier, Nicole; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthEvidence for a dominant negative disease mechanism in cap myopathy due to TPM3, Neuromuscular Disorders, vol.20, N/A,pp 464-466
2010GATA4 Mutations in 357 Unrelated Patients with Congenital Heart MalformationButler, Tanya; Sholler, Gary; Winlaw, David; Blue, Gillian; Cole, Andrew; Costa, Mauro; Esposito, Giorgia; Feneley, Michael; Harvey, Richard P; Kirk, E. P. E.; Waddell, Leigh; Walizada, Gina; Children's Hospital Westmead: Paediatrics & Child Health; Medical Radiation Sciences; Children's Hospital Westmead: Paediatrics & Child HealthGATA4 Mutations in 357 Unrelated Patients with Congenital Heart Malformation, Genetic Testing and Molecular Biomarkers, vol.14, 6,pp 1-6
2012Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophyClarke, Nigel; Cooper, Sandra; Evesson, Frances; Jones, Kristi; Menezes, Manoj; North, Kathryn; Waddell, Leigh; Corbett, Alastair; Harbord, M; Johnston, H; Kiernan, Matthew; Mowat, D; Webster, Richard; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; 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 HealthImportance and challenge of making an early diagnosis in LMNA-related muscular dystrophy, Neurology, vol.78, 16, 2012,pp 1258-1263
2006Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.Bennetts, Bruce; Carpenter, Kevin; Wilcken, Bridget; Wiley, Veronica; Andresen, Brage S.; Angel, Lyn; Waddell, Leigh; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMedium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations., Molecular Genetics and Metabolism (2005), vol.87,(1),2006,pp 32-39
2007Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and CardiomyopathyButler, Tanya; Mackay, Joel; Sholler, Gary; Sunde, Margaret; Winlaw, David; Castro, M; Cole, Andrew; Costa, Mauro; et, al; Guo, Guanglan; Hyun, C; Kirk, Edwin P; Otway, Robyn; Rankin, Scott; Waddell, Leigh; Wolstein, Olrit; Children's Hospital Westmead: Paediatrics & Child Health; Molecular & Microbial Bioscien; Children's Hospital Westmead: Medicine; Molecular & Microbial Bioscien; Children's Hospital Westmead: Paediatrics & Child HealthMutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy, American Journal of Human Genetics, vol.81,(2),2007,pp 280-291
2012Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.Clarke, Nigel; Waddell, Leigh; Aurino, Stefania; Goldfarb, Lev G.; Monforte, Mauro; Odgerel, Zagaa; Ricci, Enzo; Tasca, G; Udd, B; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthNovel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia., Muscle and Nerve, vol.46, 2, 2012,pp 275-282
2013A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesClarke, Nigel; North, Kathryn; Waddell, Leigh; Amburgey, Kimberly; Camelo-Piragua, Sandra; Davis, M; et al, Various; Kesari, Akanchha; Laing, Nigel G; Monnier, Nicole; Punetha, Jaya; Teener, James; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthA novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies, Neuromuscular Disorders, vol.23, 5, 2013,pp 432-436
2016Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseClarke, Nigel; Ghaoui, Roula; Lek, Monkol; Ma, Alan; Menezes, Manoj; O'Grady, Gina Louise; MacArthur, Daniel; Needham, Merrilee; North, Kathryn N; Peduto, Anthony J.; Sival, Deborah; van Ravenswaaij-Arts, Conny MA; Waddell, Leigh; Wong, Monica TY; Young, Helen; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthProminent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease, European Journal of Human Genetics, vol.24, 8, 2016,pp 1216-1219
2010Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type DisproportionClarke, Nigel; Cooper, Sandra; North, Kathryn; Perry, Margaret; Waddell, Leigh; Bushby, K.; Farrell, M.; Guglieri, M.; King, M; Komberg, A.; Lillis, Suzanne; Lunardi, J.; Marty, I.; Monnier, N.; Muntoni, F.; Smith, R. E.; Straub, V.; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child HealthRecessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion, Human Mutation, vol.31, 7,pp E1544-E1550
2016TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophyClarke, Nigel; Cooper, Sandra; Ghaoui, Roula; Benavides, Tatiana; Kaur, Simranpreet; Lek, Monkol; MacArthur, Daniel; North, Kathryn N.; Waddell, Leigh; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthTOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy, Neuromuscular Disorders, vol.26, 8, 2016,pp 500-503
2011Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genesClarke, Nigel; Cooper, Sandra; North, Kathryn; Waddell, Leigh; Monnier, Nicole; 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 HealthUsing complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes, Muscle & Nerve, vol.44, 2, 2011,pp 280-282