De novo mutations implicate novel genes in systemic lupus erythematosus

Rare and low-frequency coding variants alter human adult height

(2017) Eirini Marouli et al.   NATURE

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7

(2017) Yang Luo et al.   NATURE GENETICS

Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data

(2016) Huwenbo Shi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Revealing rate-limiting steps in complex disease biology: The crucial importance of studying rare, extreme-phenotype families

(2016) Aravinda Chakravarti et al.   BIOESSAYS

The genetic architecture of type 2 diabetes

(2016) Christian Fuchsberger et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Comparing performance of modern genotype imputation methods in different ethnicities

(2016) Nab Raj Roshyara et al.   Scientific Reports

Loss of δ-catenin function in severe autism

(2015) Tychele N. Turner et al.   NATURE

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers

(2015) Suna Onengut-Gumuscu et al.   NATURE GENETICS

Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus

(2015) James Bentham et al.   NATURE GENETICS

The human gene damage index as a gene-level approach to prioritizing exome variants

(2015) Yuval Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CTRP6 is an endogenous complement regulator that can effectively treat induced arthritis

(2015) Masanori A. Murayama et al.   Nature Communications

The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease

(2015) Loukas Moutsianas et al.   PLoS Genetics

Genetic variants of DNMT3A and systemic lupus erythematosus susceptibility

(2014) Piotr Piotrowski et al.   Modern Rheumatology

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Resequencing the susceptibility gene, ITGAM, identifies two functionally deleterious rare variants in systemic lupus erythematosus cases

(2014) Amy L Roberts et al.   ARTHRITIS RESEARCH & THERAPY

Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell-Defective Apoptosis and Hyperproliferation

(2013) Alexandre Belot et al.   ARTHRITIS AND RHEUMATISM

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

(2013) Karen A. Hunt et al.   NATURE

DeNovoGear: de novo indel and point mutation discovery and phasing

(2013) Avinash Ramu et al.   NATURE METHODS

Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis

(2012) Catherine T. Jordan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Luke Jostins et al.   NATURE

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

(2012) Bryan Howie et al.   NATURE GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identification of C1qTNF-related protein 4 as a potential cytokine that stimulates the STAT3 and NF-κB pathways and promotes cell survival in human cancer cells

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Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Epigenetic alterations in autoimmune rheumatic diseases

(2011) Esteban Ballestar   Nature Reviews Rheumatology

Formation of antinuclear and double-strand DNA antibodies and frequency of lupus-like syndrome in anti-TNF-α antibody-treated patients with inflammatory bowel disease

(2010) Florian Beigel et al.   INFLAMMATORY BOWEL DISEASES

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

(2010) Andre Franke et al.   NATURE GENETICS

Genotype imputation for genome-wide association studies

(2010) Jonathan Marchini et al.   NATURE REVIEWS GENETICS

Follow-up study identifies two novel susceptibility loci PRKCB and 8p11.21 for systemic lupus erythematosus

(2010) Y.-J. Sheng et al.   RHEUMATOLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Antinuclear antibodies associate with loss of response to antitumour necrosis factor-α therapy in psoriasis: a retrospective, observational study

(2009) A.E. Pink et al.   BRITISH JOURNAL OF DERMATOLOGY

Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus

(2009) B. M. Javierre et al.   GENOME RESEARCH

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Protein structure prediction on the Web: a case study using the Phyre server

(2009) Lawrence A Kelley et al.   Nature Protocols