Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk

Limb development: a paradigm of gene regulation

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Adjusting Hip Fracture Probability in Men and Women Using Hip Axis Length: the Manitoba Bone Density Database

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The Role of Hox in Pisiform and Calcaneus Growth Plate Formation and the Nature of the Zeugopod/Autopod Boundary

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Mouse Genome Database (MGD)-2017: community knowledge resource for the laboratory mouse

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Heads, Shoulders, Elbows, Knees, and Toes: Modular Gdf5 Enhancers Control Different Joints in the Vertebrate Skeleton

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Are human hands and feet affected by climate? A test of Allen's rule

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Genetic contribution to osteoarthritis development

(2015) John Loughlin   CURRENT OPINION IN RHEUMATOLOGY

A comprehensive meta-analysis of association between genetic variants of GDF5 and osteoarthritis of the knee, hip and hand

(2015) Rui Zhang et al.   INFLAMMATION RESEARCH

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease

(2015) Lucas D. Ward et al.   NUCLEIC ACIDS RESEARCH

Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA

(2014) Emilia Huerta-Sánchez et al.   NATURE

A molecular basis for classic blond hair color in Europeans

(2014) Catherine A Guenther et al.   NATURE 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

UniPROBE, update 2015: new tools and content for the online database of protein-binding microarray data on protein–DNA interactions

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Identifying Recent Adaptations in Large-Scale Genomic Data

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The complete genome sequence of a Neanderthal from the Altai Mountains

(2013) Kay Prüfer et al.   NATURE

Genome engineering using the CRISPR-Cas9 system

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A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea

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Positive Selection on the Osteoarthritis-Risk and Decreased-Height Associated Variants at the GDF5 Gene in East Asians

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A High-Coverage Genome Sequence from an Archaic Denisovan Individual

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Genomic Ancestry of North Africans Supports Back-to-Africa Migrations

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Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus

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Signs of Selective Pressure on Genetic Variants Affecting Human Height

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The Shaping of Modern Human Immune Systems by Multiregional Admixture with Archaic Humans

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GDF5 deficiency in mice is associated with instability-driven joint damage, gait and subchondral bone changes

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GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women

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Fine-scale population structure and the era of next-generation sequencing

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Homeobox genes d11–d13 and a13 control mouse autopod cortical bone and joint formation

(2010) Pablo Villavicencio-Lorini et al.   JOURNAL OF CLINICAL INVESTIGATION

Hundreds of variants clustered in genomic loci and biological pathways affect human height

(2010) Hana Lango Allen et al.   NATURE

A method and server for predicting damaging missense mutations

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Components of the transforming growth factor-  family and the pathogenesis of human Achilles tendon pathology--a genetic association study

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A Draft Sequence of the Neandertal Genome

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Signals of recent positive selection in a worldwide sample of human populations

(2009) J. K. Pickrell et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Meta-Analysis of Genome-Wide Scans for Human Adult Stature Identifies Novel Loci and Associations with Measures of Skeletal Frame Size

(2009) Nicole Soranzo et al.   PLoS Genetics

Genetic variation in the GDF5 region is associated with osteoarthritis, height, hip axis length and fracture risk: the Rotterdam study

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Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

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Common variants in the GDF5-UQCC region are associated with variation in human height

(2008) Serena Sanna et al.   NATURE GENETICS

Genome-wide association analysis identifies 20 loci that influence adult height

(2008) Michael N Weedon et al.   NATURE GENETICS

Many sequence variants affecting diversity of adult human height

(2008) Daniel F Gudbjartsson et al.   NATURE GENETICS

Identification of ten loci associated with height highlights new biological pathways in human growth

(2008) Guillaume Lettre et al.   NATURE GENETICS

UniPROBE: an online database of protein binding microarray data on protein-DNA interactions

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Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study

(2008) Jin Dai et al.   ARTHRITIS RESEARCH & THERAPY