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Author Details

Emma L Duncan
1999
108
37
PMIDPaper TitleJournal TitlePublished Year
36824040Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.2023
36161343High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench.J Bone Miner Res2023
34480857Risk factors and disease profile of post-vaccination SARS-CoV-2 infection in UK users of the COVID Symptom Study app: a prospective, community-based, nested, case-control study.Lancet Infect Dis2022
35626830Illness Characteristics of COVID-19 in Children Infected with the SARS-CoV-2 Delta Variant.Children (Basel)2022
35864567Concordance of B- and T-cell responses to SARS-CoV-2 infection, irrespective of symptoms suggestive of COVID-19.J Med Virol2022
35405936Is Secretory Activation Delayed in Women with Type Two Diabetes? A Pilot Study.Nutrients2022
35534039Reducing exacerbations in children and adults with primary ciliary dyskinesia using erdosteine and/or azithromycin therapy (REPEAT trial): study protocol for a multicentre, double-blind, double-dummy, 2ÿ2 partial factorial, randomised controlled trial.BMJ Open Respiratory Research2022
34713948The impact of Marfan syndrome on an Aboriginal Australian family: 'I don't like it as much as I don't like cancer'.Journal of Genetic Counseling2022
34583944Anxiety and depression symptoms after COVID-19 infection: results from the COVID Symptom Study app.J Neurol Neurosurg Psychiatry2021
34236040Unilateral hydrocephalus from a gangliocytoma-somatotrophinoma: first reported case.Endocrinology, Diabetes and Metabolism Case Reports2021
33692530Attributes and predictors of long COVID.Nat Med2021
33953184Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease.Nat Commun2021
33733017Gene Testing in Everyday Clinical Use: Lessons from the Bone Clinic.Journal of the Endocrine Society2021
34268526Anxiety and depression symptoms after COVID-19 infection: results from the COVID Symptom Study app.medRxiv2021
34045738Author Correction: Attributes and predictors of long COVID.Nat Med2021
33988298A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case.American Journal of Medical Genetics, Part A2021
33658983Opportunities 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 of the Royal Osteoporosis Society on October 5th 2020.Front Endocrinol (Lausanne)2021
33982665A woman with visual loss, amenorrhoea and polyuria: the first reported case of nodular lymphocyte-predominant Hodgkin lymphoma presenting with hypopituitarism.Endocrinology, Diabetes and Metabolism Case Reports2021
34032641A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young.JCI insight2021
34358472Illness duration and symptom profile in symptomatic UK school-aged children tested for SARS-CoV-2.Lancet Child Adolesc Health2021
34739865COVID-19 vaccination in pregnancy-number needed to vaccinate to avoid harm.Lancet Infectious Diseases, The2021
34873584Disentangling post-vaccination symptoms from early COVID-19.EClinicalMedicine2021
31525280A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis.J Bone Miner Res2020
32176830Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort.Journal of Bone and Mineral Research2020
31943716Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging.American Journal of Medical Genetics, Part A2020
32457804Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study.Frontiers in Genetics2020
33679611Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.Frontiers in Endocrinology2020
33193107The Genetic Architecture of High Bone Mass.Frontiers in Endocrinology2020
33276377Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.Hum Mol Genet2020
32777102The Musculoskeletal Knowledge Portal: Making Omics Data Useful to the Broader Scientific Community.J Bone Miner Res2020
29170203Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density.Ann Rheum Dis2018
29883787Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes.Bone2018
30152644Childhood Physical and Sexual Abuse Predicts Suicide Risk in a Large Cohort of Veterans.primary care companion for CNS disorders, The2018
28067412Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.Clin Genet2017
28429558Is there a role or target value for nutritional vitamin D in chronic kidney disease?Nephrology2017
28429553Conclusions and future directions: 'The known unknowns ⿦.'Nephrology2017
28422394Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.Am J Med Genet A2017
28369925Cousins not twins: intratumoural and intertumoural heterogeneity in syndromic neuroendocrine tumours.J Pathol2017
28329436Prospective evaluation of a week one overnight metyrapone test with subsequent dynamic assessments of hypothalamic-pituitary-adrenal axis function after pituitary surgery.Clinical Endocrinology2017
27733953Predictors of Calf Arterial Compliance in Male Veterans With Psychiatric Diagnoses.primary care companion for CNS disorders, The2016
27068007Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.J Med Genet2016
27426733Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.Am J Hum Genet2016
26796762Pheo-Type: A Diagnostic Gene-expression Assay for the Classification of Pheochromocytoma and Paraganglioma.Journal of Clinical Endocrinology and Metabolism2016
27094867Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.Sci Rep2016
27038415Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.Human Mutation2016
26610302The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis.Genes Immun2016
26479263Glycaemic behaviour during breastfeeding in women with Type 1 diabetes.Diabetic Medicine2016
26348019Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases.J Bone Miner Res2016
26256109Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies.J Bone Miner Res2016
24891183COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?Clin Genet2015
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