The anatomical distribution of genetic associations

GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles

(2015) Agne Antanaviciute et al.   BIOINFORMATICS

Autism spectrum disorders: from genes to neurobiology

(2015) A Jeremy Willsey et al.   CURRENT OPINION IN NEUROBIOLOGY

The human transcriptome across tissues and individuals

(2015) M. Mele et al.   SCIENCE

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cell Type-Specific Expression Analysis to Identify Putative Cellular Mechanisms for Neurogenetic Disorders

(2014) X. Xu et al.   JOURNAL OF NEUROSCIENCE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Linking tissues to phenotypes using gene expression profiles

(2014) A. Oellrich et al.   Database-The Journal of Biological Databases and Curation

Genome-wide association study of the rate of cognitive decline in Alzheimer's disease

(2013) Richard Sherva et al.   Alzheimers & Dementia

Generalization of Variants Identified by Genome-Wide Association Studies for Electrocardiographic Traits in African Americans

(2013) Janina M. Jeff et al.   ANNALS OF HUMAN GENETICS

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

(2013) Sonja I Berndt et al.   NATURE GENETICS

Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders

(2013) Marcel den Hoed et al.   NATURE GENETICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Large-scale gene function analysis with the PANTHER classification system

(2013) Huaiyu Mi et al.   Nature Protocols

Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: A genome-wide association study of 13,372 participants

(2012) R. Deo et al.   HEART RHYTHM

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

(2012) Luke Jostins et al.   NATURE

Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population

(2012) Yukinori Okada et al.   NATURE GENETICS

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

(2012) Anna Köttgen et al.   NATURE GENETICS

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

(2012) Alisa K Manning et al.   NATURE GENETICS

Keratinocyte-Targeted Expression of Human Laminin γ2 Rescues Skin Blistering and Early Lethality of Laminin γ2 Deficient Mice

(2012) Tracy L. Adair-Kirk et al.   PLoS One

Genome-Wide Association for Abdominal Subcutaneous and Visceral Adipose Reveals a Novel Locus for Visceral Fat in Women

(2012) Caroline S. Fox et al.   PLoS Genetics

Functional Variants in NFKBIE and RTKN2 Involved in Activation of the NF-κB Pathway Are Associated with Rheumatoid Arthritis in Japanese

(2012) Keiko Myouzen et al.   PLoS Genetics

Genome-wide association study of rheumatoid arthritis in Koreans: Population-specific loci as well as overlap with European susceptibility loci

(2011) Jan Freudenberg et al.   ARTHRITIS AND RHEUMATISM

Common variants at the promoter region of theAPOMconfer a risk of rheumatoid arthritis

(2011) Hae-Jin Hu et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

HLA-Cw*1202-B*5201-DRB1*1502 Haplotype Increases Risk for Ulcerative Colitis but Reduces Risk for Crohn's Disease

(2011) Yukinori Okada et al.   GASTROENTEROLOGY

Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele

(2011) Adrienne Tin et al.   HUMAN MOLECULAR GENETICS

The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population

(2011) Chikashi Terao et al.   HUMAN MOLECULAR GENETICS

Pathway-driven gene stability selection of two rheumatoid arthritis GWAS identifies and validates new susceptibility genes in receptor mediated signalling pathways

(2011) Hariklia Eleftherohorinou et al.   HUMAN MOLECULAR GENETICS

Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs

(2011) Tuomo Rankinen et al.   JOURNAL OF APPLIED PHYSIOLOGY

Multiple Genetic Loci Influence Serum Urate Levels and Their Relationship With Gout and Cardiovascular Disease Risk Factors

(2010) Qiong Yang et al.   Circulation-Cardiovascular Genetics

Genome-wide association analysis identifies multiple loci related to resting heart rate

(2010) M. Eijgelsheim et al.   HUMAN MOLECULAR GENETICS

A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility

(2010) Yuta Kochi et al.   NATURE GENETICS

Genome-wide association study of hematological and biochemical traits in a Japanese population

(2010) Yoichiro Kamatani et al.   NATURE GENETICS

Analytical approaches to RNA profiling data for the identification of genes enriched in specific cells

(2010) Joseph D. Dougherty et al.   NUCLEIC ACIDS RESEARCH

Atopic Dermatitis-Like Disease and Associated Lethal Myeloproliferative Disorder Arise from Loss of Notch Signaling in the Murine Skin

(2010) Alexis Dumortier et al.   PLoS One

The Canonical Notch Signaling Pathway: Unfolding the Activation Mechanism

(2009) Raphael Kopan et al.   CELL

A Genome-Wide Association Scan of RR and QT Interval Duration in 3 European Genetically Isolated Populations

(2009) Fabio Marroni et al.   Circulation-Cardiovascular Genetics

Scoring and monitoring the severity of psoriasis. What is the preferred method? What is the ideal method? Is PASI passé? facts and controversies

(2009) Luigi Naldi   CLINICS IN DERMATOLOGY

Herlitz Junctional Epidermolysis Bullosa

(2009) Martin Laimer et al.   DERMATOLOGIC CLINICS

Genome wide association (GWA) predictors of anti-TNFα therapeutic responsiveness in pediatric inflammatory bowel disease

(2009) Marla C. Dubinsky et al.   INFLAMMATORY BOWEL DISEASES

REL, encoding a member of the NF-κB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis

(2009) Peter K Gregersen et al.   NATURE GENETICS

Common variants at five new loci associated with early-onset inflammatory bowel disease

(2009) Marcin Imielinski et al.   NATURE GENETICS

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

An Abundance of Ubiquitously Expressed Genes Revealed by Tissue Transcriptome Sequence Data

(2009) Daniel Ramsköld et al.   PLoS Computational Biology

Genome-wide Association Study Identifies Genes for Biomarkers of Cardiovascular Disease: Serum Urate and Dyslipidemia

(2008) Chris Wallace et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide association study of rheumatoid arthritis in the Spanish population:KLF12as a risk locus for rheumatoid arthritis susceptibility

(2008) Antonio Julià et al.   ARTHRITIS AND RHEUMATISM

Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study

(2008) Abbas Dehghan et al.   LANCET

Common variants at CD40 and other loci confer risk of rheumatoid arthritis

(2008) Soumya Raychaudhuri et al.   NATURE GENETICS

Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease

(2008) Subra Kugathasan et al.   NATURE GENETICS

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

(2008) Veronique Vitart et al.   NATURE GENETICS

SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

(2008) Angela Döring et al.   NATURE GENETICS

A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes

(2008) K. Lage et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Notch-Deficient Skin Induces a Lethal Systemic B-Lymphoproliferative Disorder by Secreting TSLP, a Sentinel for Epidermal Integrity

(2008) Shadmehr Demehri et al.   PLOS BIOLOGY