Browsing by Author Children's Hospital Westmead: Genetic Medicine

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Showing results 1 to 9 of 9
Issue DateTitleAuthor(s)Citation
2015Clinical and Molecular Characterization of the 20q11.2 Microdeletion Syndrome: Six New PatientsEwans, Lisa; Wilson, Meredith; Andrieux, Joris; Crolla, John; Demeer, Benedicte; et al, Various; Foulds, Nicola; Jedraszak, Guillaume; Mathieu-Dramard, Michele; Maye, Una; Receveur, Aline; Temple, Ik; Weber, Astrid; Children's Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthClinical and Molecular Characterization of the 20q11.2 Microdeletion Syndrome: Six New Patients, American Journal of Medical Genetics. Part A, vol.167A, 3, 2015,pp 504-511
2015Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectChristodoulou, John; Clarke, Nigel; Guo, Yiran; Liang, Jinlong; Menezes, Manoj; Menezes, Minal; Andrews, P Ian; et al, Various; Keating, Brendan; Li, Dong; Liu, Xuanzhu; Riley, Lisa G.; Shen, Yulan; Thorburn, David R.; Tian, Lifeng; Wang, Fengxiang; Webster, Richard; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Children's Hospital Westmead: Genetic Medicine; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthDelayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect, Neuromuscular Disorders, vol.25, N/A, 2015,pp 257-261
2017The dilemma of diagnostic testing for Prader-Willi syndromeHung, Dorothy; Smith, Arabella; Children's Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: MedicineThe dilemma of diagnostic testing for Prader-Willi syndrome, Translational Pediatrics, vol.6, 1, 2017,pp 46-56
2016Disorders of sex development: insights from targeted gene sequencing of a large international patient cohortCowell, Christopher; Ewans, Lisa; Shalhoub, Carolyn; Smith, Grahame; Smith, Janine Margo; Bouty, Aurore; Eggers, Stephanie; et al, Various; Hewitt, Jacqueline; Knarston, Ingrid; Lambeth, Luke; Ohnesorg, Thomas; Robevska, Gorjana; Sadedin, Simon; van den Bergen, Jocelyn; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsDisorders of sex development: insights from targeted gene sequencing of a large international patient cohort, Genome Biology, vol.17, 1, 2016,pp 1-21
2016The Immune Phenotype of Patients with CHARGE SyndromeBarnes, Elizabeth; Ma, Alan; Munns, Craig; Wilson, Meredith; Hoefsloot, Lies; Hsu, Peter; Mehr, Sam; Rinne, Tuula; Williams, George; Wong, Melanie; NH&MRC Clinical Trials Centre; Children's Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthThe Immune Phenotype of Patients with CHARGE Syndrome, The Journal of Allergy and Clinical Immunology: In Practice, vol.4, 1, 2016,pp 96-103e.2
2012The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research.Legius, Eric; North, Kathryn; Acosta, Maria; Bearden, Carrie E; Castellanos, Xavier; Cutting, Laurie; Elgersma, Ype; et al, Various; Gioia, Gerard; Gutmann, D; Lee, Yong-Seok; Muenke, Maximillian; Parada, Luis; Children's Hospital Westmead: Genetic Medicine; Children's Hospital Westmead: Paediatrics & Child HealthThe Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research., American Journal of Medical Genetics. Part A, vol.158A, 9, 2012,pp 2225-2232
2005Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.Alexander, Stephen; Berman, Yemima; Collins, Felicity; Fletcher, Jeffery; Grigg, John; Hu, Min; McIver, Margot; Juppner, Harald; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Children's Hospital Westmead: Childrens Medical Research Ins; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Childrens Medical Research Ins; School of Rural Health: MedicineMulticystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2., Journal of the American Society of Nephrology, vol.16,(9),2005,pp 2754-2761
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
2016Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation SequencingBennetts, Bruce; Billson, Frank; Cheng, Anson; Christodoulou, John; Flaherty, Maree; Fraser, Clare; Grigg, John; Jamieson, Robyn; Ma, Alan; Martin, Frank; Prokudin, Ivan; Farnsworth, Elizabeth; Ho, Gladys; Holman, katherine; Mowat, David; Smith, James; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Clinical Ophthal & Eye Health; Childrens Medical Research Institute (CMRI); Children's Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Medical Research Institute (CMRI)Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation Sequencing, Human Mutation, vol.37, 4, 2016,pp 371-384