Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures

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

(2015) Hou‐Feng Zheng et al.   NATURE

Large-scale whole-genome sequencing of the Icelandic population

(2015) Daniel F Gudbjartsson et al.   NATURE GENETICS

The R-spondin/Lgr5/Rnf43 module: regulator of Wnt signal strength

(2014) W. de Lau et al.   GENES & DEVELOPMENT

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

(2014) Alireza Moayyeri et al.   HUMAN MOLECULAR GENETICS

Defining the role of common variation in the genomic and biological architecture of adult human height

(2014) Andrew R Wood et al.   NATURE GENETICS

Gli1 Haploinsufficiency Leads to Decreased Bone Mass with an Uncoupling of Bone Metabolism in Adult Mice

(2014) Yoshiaki Kitaura et al.   PLoS One

Patterns of regulatory activity across diverse human cell types predict tissue identity, transcription factor binding, and long-range interactions

(2013) N. C. Sheffield et al.   GENOME RESEARCH

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

(2013) Unnur Styrkarsdottir et al.   NATURE

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

WNT signaling in bone homeostasis and disease: from human mutations to treatments

(2013) Roland Baron et al.   NATURE MEDICINE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

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

(2012) Karol Estrada et al.   NATURE GENETICS

Prevalence and risk factors of radiographic vertebral fractures in elderly Chinese men and women: results of Mr. OS (Hong Kong) and Ms. OS (Hong Kong) studies

(2012) A. W. L. Kwok et al.   OSTEOPOROSIS INTERNATIONAL

The NIH Roadmap Epigenomics Program data resource

(2012) Lisa Helbling Chadwick   Epigenomics

Building strong bones: molecular regulation of the osteoblast lineage

(2011) Fanxin Long   NATURE REVIEWS MOLECULAR CELL BIOLOGY

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

A User's Guide to the Encyclopedia of DNA Elements (ENCODE)

(2011)   PLOS BIOLOGY

Genome-Wide Association Study Using Extreme Truncate Selection Identifies Novel Genes Affecting Bone Mineral Density and Fracture Risk

(2011) Emma L. Duncan et al.   PLoS Genetics

Association of JAG1 with Bone Mineral Density and Osteoporotic Fractures: A Genome-wide Association Study and Follow-up Replication Studies

(2010) Annie W.C. Kung et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LocusZoom: regional visualization of genome-wide association scan results

(2010) R. J. Pruim et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Fine-scale recombination rate differences between sexes, populations and individuals

(2010) Augustine Kong et al.   NATURE

An Integration of Genome-Wide Association Study and Gene Expression Profiling to Prioritize the Discovery of Novel Susceptibility Loci for Osteoporosis-Related Traits

(2010) Yi-Hsiang Hsu et al.   PLoS Genetics

Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups

(2009) Dong-Hai Xiong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sex-specific effect of Pirin gene on bone mineral density in a cohort of 4000 Chinese

(2009) Nelson L.S. Tang et al.   BONE

Parental origin of sequence variants associated with complex diseases

(2009) Augustine Kong et al.   NATURE

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

(2009) Fernando Rivadeneira et al.   NATURE GENETICS

Human genetics of osteoporosis

(2008) Serge Ferrari   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Patched1 Haploinsufficiency Increases Adult Bone Mass and Modulates Gli3 Repressor Activity

(2008) Shinsuke Ohba et al.   DEVELOPMENTAL CELL

Hedgehog Signaling in Mature Osteoblasts Regulates Bone Formation and Resorption by Controlling PTHrP and RANKL Expression

(2008) Kinglun Kingston Mak et al.   DEVELOPMENTAL CELL

Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study

(2008) JB Richards et al.   LANCET

Genetics of gene expression and its effect on disease

(2008) Valur Emilsson et al.   NATURE

Detection of sharing by descent, long-range phasing and haplotype imputation

(2008) Augustine Kong et al.   NATURE GENETICS

New sequence variants associated with bone mineral density

(2008) Unnur Styrkarsdottir et al.   NATURE GENETICS

Multiple Genetic Loci for Bone Mineral Density and Fractures

(2008) Unnur Styrkarsdottir et al.   NEW ENGLAND JOURNAL OF MEDICINE