The Genetic Architecture of High Bone Mass

by Celia L. Gregson, Emma L. Duncan
Published 2020-10-01

Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls

by Aideen M. McInerney-Leo, Emma L. Duncan
Published 2021-02-01

Unilateral hydrocephalus from a gangliocytoma-somatotrophinoma: first reported case

by Simon Ryder, Jed Robusto, Thomas Robertson, Hamish Alexander, Emma L Duncan
Published 2021-07-01

A woman with visual loss, amenorrhoea and polyuria: the first reported case of nodular lymphocyte-predominant Hodgkin lymphoma presenting with hypopituitarism

by Matthew Seymour, Thomas Robertson, Jason Papacostas, Kirk Morris, Jennifer Gillespie, Debra Norris, Emma L Duncan
Published 2021-05-01

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.

by Evgeny A Glazov, Andreas Zankl, Marina Donskoi, Tony J Kenna, Gethin P Thomas, Graeme R Clark, Emma L Duncan, Matthew A Brown
Published 2011-03-01

Loss of wild-type ATRX expression in somatic cell hybrids segregates with activation of Alternative Lengthening of Telomeres.

by Kylie Bower, Christine E Napier, Sara L Cole, Rebecca A Dagg, Loretta M S Lau, Emma L Duncan, Elsa L Moy, Roger R Reddel
Published 2012-01-01

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome

by Aideen M. McInerney‐Leo, Jennifer West, Lawrie Wheeler, Paul J. Leo, Kim M. Summers, Lisa Anderson, Matthew A. Brown, Malcolm West, Emma L. Duncan
Published 2020-03-01

An Adrenocortical Carcinoma Evolving from A Small Adrenal Incidentaloma after Years of Latency

by Moe Thuzar, MBBS, MRCP (UK), FRACP, Donald A. Perry-Keene, MBBS, FRACP, Michael C. d'Emden, MBBS, FRACP, PhD, Emma L. Duncan, MBBS, FRACP, FRCP, PhD
Published 2018-01-01

Opportunities and Challenges in Functional Genomics Research in Osteoporosis: Report From a Workshop Held by the Causes Working Group of the Osteoporosis and Bone Research Academy...

by Jonathan H. Tobias, Jonathan H. Tobias, Emma L. Duncan, Erika Kague, Chrissy L. Hammond, Celia L. Gregson, Celia L. Gregson, Duncan Bassett, Graham R. Williams, Josine L. Min, Tom R. Gaunt, David Karasik, Claes Ohlsson, Fernando Rivadeneira, James R. Edwards, Fadil M. Hannan, John P. Kemp, John P. Kemp, Sophie J. Gilbert, Nerea Alonso, Neelam Hassan, Juliet E. Compston, Stuart H. Ralston
Published 2021-02-01

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.

by Emma L Duncan, Patrick Danoy, John P Kemp, Paul J Leo, Eugene McCloskey, Geoffrey C Nicholson, Richard Eastell, Richard L Prince, John A Eisman, Graeme Jones, Philip N Sambrook, Ian R Reid, Elaine M Dennison, John Wark, J Brent Richards, Andre G Uitterlinden, Tim D Spector, Chris Esapa, Roger D Cox, Steve D M Brown, Rajesh V Thakker, Kathryn A Addison, Linda A Bradbury, Jacqueline R Center, Cyrus Cooper, Catherine Cremin, Karol Estrada, Dieter Felsenberg, Claus-C Glüer, Johanna Hadler, Margaret J Henry, Albert Hofman, Mark A Kotowicz, Joanna Makovey, Sing C Nguyen, Tuan V Nguyen, Julie A Pasco, Karena Pryce, David M Reid, Fernando Rivadeneira, Christian Roux, Kari Stefansson, Unnur Styrkarsdottir, Gudmar Thorleifsson, Rumbidzai Tichawangana, David M Evans, Matthew A Brown
Published 2011-04-01