List of works - Emma L. Duncan

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

scientific article

Isolation of a candidate human telomerase catalytic subunit gene, which reveals complex splicing patterns in different cell types.

scientific article published on November 1997

Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci

scientific article published on 10 January 2010

Susceptibility to ankylosing spondylitis in twins the role of genes, HLA, and the environment

article

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

scientific article

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

scientific article

WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk

scientific article published in July 2012

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass

scientific article

Multistage genome-wide association meta-analyses identified two new loci for bone mineral density

scientific article

Association ofERAP1, but notIL23R, with ankylosing spondylitis in a Han Chinese population

article

Common variants in the region around Osterix are associated with bone mineral density and growth in childhood

scientific article published on 30 January 2009

Genetic analyses in a sample of individuals with high or low BMD shows association with multiple Wnt pathway genes

scientific article

Acute fluid shifts influence the assessment of serum vitamin D status in critically ill patients.

scientific article published on 26 November 2010

Influence of LRP5 Polymorphisms on Normal Variation in BMD

article

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

scientific journal article

Loci for regulation of bone mineral density in men and women identified by genome wide linkage scan: the FAMOS study.

scientific article published on 3 March 2005

Suggestive Linkage of the Parathyroid Receptor Type 1 to Osteoporosis

article

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

scientific journal article

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

scientific article

Site and Gender Specificity of Inheritance of Bone Mineral Density

article

Malignant transformation of NIH3T3 cells by overexpression of mot-2 protein.

scientific article published on August 1998

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

scientific article

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

scientific article

Marked increase in proton pump inhibitors use in Australia

scientific article published on October 2010

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

scientific article published in March 2012

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

scientific article

Improving diagnosis of tumor-induced osteomalacia with Gallium-68 DOTATATE PET/CT.

scientific article

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

scientific article published in August 2017

LRP5 regulates human body fat distribution by modulating adipose progenitor biology in a dose- and depot-specific fashion.

scientific article

A novel serogenetic approach determines the community prevalence of celiac disease and informs improved diagnostic pathways.

scientific article

Association of FOXE1 polyalanine repeat region with papillary thyroid cancer

scientific article

'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass

scientific article published on April 2011

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal article

Assignment of SV40-immortalized cells to more than one complementation group for immortalization

scientific article published on April 1993

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

scientific article published on 25 October 2013

Clinical review 2: Genetic determinants of bone density and fracture risk--state of the art and future directions

scientific article published on 07 April 2010

SV40-induced immortalization and ras-transformation of human bronchial epithelial cells.

scientific article published on April 1995

Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus

scientific article

Genome-wide Association Study for Radiographic Vertebral Fractures: A Potential Role for the 16q24 BMD Locus versus Lessons Learned from Challenging Phenotype Definition

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

scientific article published on 18 August 2015

Differential display of mRNA.

scientific article

Senescence and immortalization of human cells.

scientific article

Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists

scientific article published on 08 July 2011

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

scientific article published on April 2016

Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies

scientific article published on 08 August 2015

The genetics of osteoporosis

scientific article published on 29 January 2015

Cross-calibration of dual-energy X-ray densitometers for a large, multi-center genetic study of osteoporosis

scientific article published on September 2005

A novel putative collaborator of p19ARF

scientific article

Downregulation of metallothionein-IIA expression occurs at immortalization

scientific article

List of works by Emma L. Duncan

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Isolation of a candidate human telomerase catalytic subunit gene, which reveals complex splicing patterns in different cell types.

Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci

Susceptibility to ankylosing spondylitis in twins the role of genes, HLA, and the environment

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

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

WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass

Multistage genome-wide association meta-analyses identified two new loci for bone mineral density

Association ofERAP1, but notIL23R, with ankylosing spondylitis in a Han Chinese population

Common variants in the region around Osterix are associated with bone mineral density and growth in childhood

Genetic analyses in a sample of individuals with high or low BMD shows association with multiple Wnt pathway genes

Acute fluid shifts influence the assessment of serum vitamin D status in critically ill patients.

Influence of LRP5 Polymorphisms on Normal Variation in BMD

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

Loci for regulation of bone mineral density in men and women identified by genome wide linkage scan: the FAMOS study.

Suggestive Linkage of the Parathyroid Receptor Type 1 to Osteoporosis

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

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

Site and Gender Specificity of Inheritance of Bone Mineral Density

Malignant transformation of NIH3T3 cells by overexpression of mot-2 protein.

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

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

Marked increase in proton pump inhibitors use in Australia

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

Improving diagnosis of tumor-induced osteomalacia with Gallium-68 DOTATATE PET/CT.

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

LRP5 regulates human body fat distribution by modulating adipose progenitor biology in a dose- and depot-specific fashion.

A novel serogenetic approach determines the community prevalence of celiac disease and informs improved diagnostic pathways.

Association of FOXE1 polyalanine repeat region with papillary thyroid cancer

'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Assignment of SV40-immortalized cells to more than one complementation group for immortalization

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

Clinical review 2: Genetic determinants of bone density and fracture risk--state of the art and future directions

SV40-induced immortalization and ras-transformation of human bronchial epithelial cells.

Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus

Genome-wide Association Study for Radiographic Vertebral Fractures: A Potential Role for the 16q24 BMD Locus versus Lessons Learned from Challenging Phenotype Definition

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

Differential display of mRNA.

Senescence and immortalization of human cells.

Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies

The genetics of osteoporosis

Cross-calibration of dual-energy X-ray densitometers for a large, multi-center genetic study of osteoporosis

A novel putative collaborator of p19ARF

Downregulation of metallothionein-IIA expression occurs at immortalization