Two Rare Mutations in theCOL1A2Gene Associate With Low Bone Mineral Density and Fractures in Iceland

Loss-of-function variants in ATM confer risk of gastric cancer

(2015) Hannes Helgason et al.   NATURE GENETICS

Large-scale whole-genome sequencing of the Icelandic population

(2015) Daniel F Gudbjartsson et al.   NATURE GENETICS

Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations

(2014) Telma Palomo et al.   BONE

What is new in genetics and osteogenesis imperfecta classification?

(2014) Eugênia R. Valadares et al.   Jornal de Pediatria

Mutations in WNT1 Cause Different Forms of Bone Fragility

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dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

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

(2013) Unnur Styrkarsdottir et al.   NATURE

WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

(2013) Christine M. Laine et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Epistatic Selection between Coding and Regulatory Variation in Human Evolution and Disease

(2011) Tuuli Lappalainen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

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

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

(2010) A. McKenna et al.   GENOME RESEARCH

Polymorphisms in the 5′ flank of COL1A1 gene and osteoporosis: meta-analysis of published studies

(2010) H. Jin et al.   OSTEOPOROSIS INTERNATIONAL

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

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

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

(2008) JB Richards et al.   LANCET

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

A reference standard for the description of osteoporosis

(2007) John A. Kanis et al.   BONE