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Authors: Emma L Duncan
Journal Article
Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism Open Access
Journal of Bone and Mineral Research, Volume 38, Issue 5, 1 May 2023, Pages 678–691, https://doi.org/10.1002/jbmr.4795
Published: 23 February 2023
Journal Article
PPI‐Induced Changes in Plasma Metabolite Levels Influence Total Hip Bone Mineral Density in a UK Cohort Open Access
Journal of Bone and Mineral Research, Volume 38, Issue 2, 1 February 2023, Pages 326–334, https://doi.org/10.1002/jbmr.4754
Published: 02 December 2022
Journal Article
High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench Open Access
Journal of Bone and Mineral Research, Volume 38, Issue 2, 1 February 2023, Pages 229–247, https://doi.org/10.1002/jbmr.4715
Published: 26 September 2022
Journal Article
Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB’s role in oncogenesis Open Access
Human Molecular Genetics, Volume 30, Issue 24, 15 December 2021, Pages 2393–2401, https://doi.org/10.1093/hmg/ddab172
Published: 19 July 2021
Journal Article
Post-Traumatic Heterotopic Ossification With Incidental Hyperparathyroidism Open Access
Journal of the Endocrine Society, Volume 5, Issue Supplement_1, April-May 2021, Page A212, https://doi.org/10.1210/jendso/bvab048.431
Published: 03 May 2021
Journal Article
Gene Testing in Everyday Clinical Use: Lessons from the Bone Clinic Open Access
Journal of the Endocrine Society, Volume 5, Issue 4, April 2021, bvaa200, https://doi.org/10.1210/jendso/bvaa200
Published: 30 December 2020
Journal Article
Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5? Free
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 4, April 2021, Pages e1163–e1182, https://doi.org/10.1210/clinem/dgaa957
Published: 24 December 2020
Journal Article
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice Free
Human Molecular Genetics, Volume 29, Issue 22, 15 November 2020, Pages 3662–3678, https://doi.org/10.1093/hmg/ddaa258
Published: 04 December 2020
Journal Article
The Musculoskeletal Knowledge Portal: Making Omics Data Useful to the Broader Scientific Community Get access
Journal of Bone and Mineral Research, Volume 35, Issue 9, 1 September 2020, Pages 1626–1633, https://doi.org/10.1002/jbmr.4147
Published: 10 August 2020
Journal Article
Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort Open Access
Journal of Bone and Mineral Research, Volume 35, Issue 7, 1 July 2020, Pages 1246–1252, https://doi.org/10.1002/jbmr.4007
Published: 16 March 2020
Journal Article
A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis Open Access
Journal of Bone and Mineral Research, Volume 35, Issue 1, 1 January 2020, Pages 92–105, https://doi.org/10.1002/jbmr.3875
Published: 16 September 2019
Journal Article
Atypical Femoral Fracture: A Fascinating Story in Evolution Get access
Journal of Bone and Mineral Research, Volume 33, Issue 12, 1 December 2018, Pages 2089–2090, https://doi.org/10.1002/jbmr.3629
Published: 29 November 2018
Journal Article
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing Open Access
Journal of the Endocrine Society, Volume 3, Issue 1, January 2019, Pages 201–221, https://doi.org/10.1210/js.2018-00130
Published: 30 October 2018
Journal Article
HLA and KIR Associations of Cervical Neoplasia Free
The Journal of Infectious Diseases, Volume 218, Issue 12, 15 December 2018, Pages 2006–2015, https://doi.org/10.1093/infdis/jiy483
Published: 07 August 2018
Journal Article
Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype Get access
Journal of Bone and Mineral Research, Volume 33, Issue 7, 1 July 2018, Pages 1260–1271, https://doi.org/10.1002/jbmr.3424
Published: 18 April 2018
Journal Article
Pheo-Type: A Diagnostic Gene-expression Assay for the Classification of Pheochromocytoma and Paraganglioma Free
The Journal of Clinical Endocrinology & Metabolism, Volume 101, Issue 3, 1 March 2016, Pages 1034–1043, https://doi.org/10.1210/jc.2015-3889
Published: 01 March 2016
Journal Article
Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases Open Access
Journal of Bone and Mineral Research, Volume 31, Issue 3, 1 March 2016, Pages 640–649, https://doi.org/10.1002/jbmr.2706
Published: 08 September 2015
Journal Article
Identification of IDUA and WNT16 Phosphorylation‐Related Non‐Synonymous Polymorphisms for Bone Mineral Density in Meta‐Analyses of Genome‐Wide Association Studies Get access
Journal of Bone and Mineral Research, Volume 31, Issue 2, 1 February 2016, Pages 358–368, https://doi.org/10.1002/jbmr.2687
Published: 08 August 2015
Journal Article
Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies Get access
Human Molecular Genetics, Volume 24, Issue 16, 15 August 2015, Pages 4710–4727, https://doi.org/10.1093/hmg/ddv144
Published: 04 May 2015
Journal Article
The genetics of osteoporosis Get access
British Medical Bulletin, Volume 113, Issue 1, March 2015, Pages 73–81, https://doi.org/10.1093/bmb/ldu042
Published: 29 January 2015
