Browsing by Author Duncan, Emma

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Showing results 1 to 14 of 14
Issue DateTitleAuthor(s)Citation
2012Association of FOXE1 Polyalanine Repeat Region with Papillary Thyroid CancerClifton-Bligh, Roderick; Delbridge, Leigh; Learoyd, Diana; O'Neill, Christine; Robinson, Bruce; Sidhu, Stanley; Sywak, Mark; Tacon, Lyndal; Bullock, Martyn; Duncan, Emma; Ludgate, Marian; Northern Clinical School: Medicine; Northern Clinical School: Surgery; Northern Clinical School: Medicine; Northern Clinical School: Surgery; Northern Clinical School: Medicine; Northern Clinical School: Kolling Institute; Northern Clinical School: Surgery; Northern Clinical School: Kolling InstituteAssociation of FOXE1 Polyalanine Repeat Region with Papillary Thyroid Cancer, Journal of Clinical Endocrinology and Metabolism, vol.97, 9, 2012,pp e1814-e1819
2015COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?Zankl, Andreas; Bradbury, Linda; Brown, Matthew; Clark, Graeme; Duncan, Emma; Gardiner, Brooke; Harris, J E; Leo, Paul; McInerney-Leo, Aideen; Childrens Hospital Westmead: Paediatrics & Child HealthCOL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?, Clinical Genetics, vol.88, 1, 2015,pp 49-55
2015Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defectsZankl, Andreas; Brown, Matthew; Duncan, Emma; Dunwoodie, Sally; Gardiner, Brooke; Harris, Jessica; Leo, Paul; Marshall, Mhairi; McInerney-Leo, Aideen; O'Reilly, Victoria; Shi, Hongjun; Sparrow, D. B.; Childrens Hospital Westmead: Paediatrics & Child HealthCompound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects, Human Molecular Genetics, vol.24, 5, 2015,pp 1234-1242
2017Cousins not twins: intratumoral and intertumoral heterogeneity in syndromic neuroendocrine tumoursBenn, Diana; Clifton-Bligh, Roderick; Dwight, Trisha; Gill, Anthony; Robinson, Bruce; Colebatch, Andrew J; Deb, Siddhartha; Duncan, Emma; Duong, Cuong; Ellul, Jason; et al, Various; Flynn, Aidan; Fox, Stephen B; Harris, Jessica; Hogg, Annette; To, Henry; Northern Clinical School: Kolling Institute; Northern Clinical School: Medicine; Northern Clinical School: NCS Office; Northern Clinical School: Pathology; Northern Clinical School: MedicineCousins not twins: intratumoral and intertumoral heterogeneity in syndromic neuroendocrine tumours, Journal of Pathology, vol.242, 3, 2017,pp 273-283
2012Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fractureSambrook, Philip; Albagha, Omar M E; Amin, Najaf; Duncan, Emma; Estrada, Karol; et al, Various; Evangelou, Evangelos; Hsu, Yi-Hsiang; Kemp, John; Lewis, Joshua Richard; Ntzani, Evangelia E; Oei, Ling D W; Styrkarsdottir, Unnur; Northern Clinical School: MedicineGenome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture, Nature Genetics, vol.44, 5, 2012,pp 491-501
2012Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fractureSambrook, Philip; Albagha, Omar M E; Amin, Najaf; Duncan, Emma; Estrada, Karol; et al, Various; Evangelou, Evangelos; Hsu, Yi-Hsiang; Kemp, John; Lewis, Joshua Richard; Ntzani, Evangelia E; Oei, Ling D W; Styrkarsdottir, Unnur; Northern Clinical School: MedicineGenome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture, Nature Genetics, vol.44, 5, 2012,pp 491-501
2017Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrumZankl, Andreas; Anderson, L; Brown, Matthew; Duncan, Emma; Leo, Paul; Marshall, M; McInerney-Leo, Aideen M; Wheeler, L; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthHomozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum, American Journal of Medical Genetics, Part A, vol.173A, 6, 2017,pp 1698-1704
2013Improving diagnosis of tumor-induced osteomalacia with gallium-68 DOTATATE PET/CTClifton-Bligh, Roderick; Gill, Anthony; Clarkson, Adele; Darnell, David; Duncan, Emma; Ebeling, Peter R; Hicks, Rodney J; Hofman, Michael S; Sim, li-Wen; Walsh, John P; Wong, Tricia; Northern Clinical School: Medicine; Northern Clinical School: PathologyImproving diagnosis of tumor-induced osteomalacia with gallium-68 DOTATATE PET/CT, Journal of Clinical Endocrinology and Metabolism, vol.98, 2, 2013,pp 687-694
2016Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionZankl, Andreas; Anderson, Lisa K.; Brown, Matthew; Cortes, Claudio; Duncan, Emma; Harris, Jessica; Keith, Patrick A.; Leo, Paul; McInerney-Leo, Aideen; Ramsing, Mette; Rondon Galeano, Maria C.; Vogel, I; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function, Scientific Reports, vol.6, N/A, 2016,pp 1-10
2016Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionZankl, Andreas; Anderson, Lisa K.; Brown, Matthew; Cortes, Claudio; Duncan, Emma; Harris, Jessica; Keith, Patrick A.; Leo, Paul; McInerney-Leo, Aideen; Ramsing, Mette; Rondon Galeano, Maria C.; Vogel, I; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function, Scientific Reports, vol.6, N/A, 2016,pp 1-10
2015Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese originNicholson, Garth; Blair, Ian P.; Duncan, Emma; Fifita, Jennifer A.; Leo, Paul; Marshall, M S; McCann, Emily P.; Rowe, Dominic B.; Williams, Kelly; Zhang, Katharine Y; Concord Clinical School: ANZAC Research InstituteNovel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin, Neurobiology of Aging, vol.36, 12, 2015,pp 3334.e1-3334.e5
2016Pheo-Type: A Diagnostic Gene-expression Assay for the Classification of Pheochromocytoma and ParagangliomaBenn, Diana; Clifton-Bligh, Roderick; Dwight, Trisha; Gill, Anthony; Catchpoole, Daniel; Duncan, Emma; Flynn, Aidan; Harris, Jessica; Hicks, Rodney J.; Hogg, Annette; James, Paul; Tothill, Richard W.; Trainer, Alison; Zhou, Li; Northern Clinical School: Kolling Institute; Northern Clinical School: Medicine; Northern Clinical School: NCS Office; Northern Clinical School: PathologyPheo-Type: A Diagnostic Gene-expression Assay for the Classification of Pheochromocytoma and Paraganglioma, Journal of Clinical Endocrinology and Metabolism, vol.101, 3, 2016,pp 1034-1043
2014Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomasBenn, Diana; Clifton-Bligh, Roderick; Robinson, Bruce; Brown, Matthew; Duncan, Emma; Gardiner, Brooke; Leo, Paul; Marshall, Mhairi; McFarlane, Janelle; McInerney-Leo, Aideen; Northern Clinical School: Kolling Institute; Northern Clinical School: Medicine; Northern Clinical School: MedicineWhole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas, Clinical Endocrinology, vol.80, 1, 2014,pp 25-33
2012WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture riskSambrook, Philip; Bergstrom, Ulrica; Duncan, Emma; Eriksson, Joel; et al, Various; Evans, David; Kahonen, Mika; Lehtimaki, Terho; Paternoster, Lavinia; Tobias, John H; Yerges-Armstrong, Laura M; Zheng, Hou-Feng; Northern Clinical School: MedicineWNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk, PLoS Genetics, vol.8, 7, 2012,pp 1-13