Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension

Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension

(2022) Tanika N. Kelly et al.   HYPERTENSION

The missing diversity in human epigenomic studies

(2022) Charles E. Breeze et al.   NATURE GENETICS

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

(2022) Steven Gazal et al.   NATURE GENETICS

The FES Gene at the 15q26 Coronary-Artery-Disease Locus Inhibits Atherosclerosis

(2022) Elisavet Karamanavi et al.   CIRCULATION RESEARCH

Long-range phasing of dynamic, tissue-specific and allele-specific regulatory elements

(2022) Sofia Battaglia et al.   NATURE GENETICS

African-specific alleles modify risk for asthma at the 17q12-q21 locus in African Americans

(2022) Charles Washington et al.   Genome Medicine

Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage

(2022) Maria Ercu et al.   CIRCULATION

An Academic Clinician’s Road Map to Hypertension Genomics

(2021) Emma F. Magavern et al.   HYPERTENSION

Regulatory genomic circuitry of human disease loci by integrative epigenomics

(2021) Carles A. Boix et al.   NATURE

Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney

(2021) James M. Eales et al.   NATURE GENETICS

TBX3 induces biased differentiation of human induced pluripotent stem cells into cardiac pacemaker-like cells

(2021) Ying Yan et al.   GENE EXPRESSION PATTERNS

Exome sequencing and analysis of 454,787 UK Biobank participants

(2021) Joshua D. Backman et al.   NATURE

A cross-population atlas of genetic associations for 220 human phenotypes

(2021) Saori Sakaue et al.   NATURE GENETICS

Large-scale integration of the plasma proteome with genetics and disease

(2021) Egil Ferkingstad et al.   NATURE GENETICS

The emerging role of angiotensinogen in cardiovascular diseases

(2020) Yinchuan Xu et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Theoretical and empirical quantification of the accuracy of polygenic scores in ancestry divergent populations

(2020) Ying Wang et al.   Nature Communications

Global burden of 87 risk factors in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

(2020) Christopher J L Murray et al.   LANCET

Cells of the adult human heart

(2020) Monika Litviňuková et al.   NATURE

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

(2020) Praveen Surendran et al.   NATURE GENETICS

Disorders affecting vitamin B 6 metabolism

(2019) Matthew P. Wilson et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Protective Role of RNA Helicase DEAD-Box Protein 5 in Smooth Muscle Cell Proliferation and Vascular Remodeling

(2019) Ye Fan et al.   CIRCULATION RESEARCH

GREP: Genome for REPositioning drugs

(2019) Saori Sakaue et al.   BIOINFORMATICS

Cathepsin B increases ENaC activity leading to hypertension early in nephrotic syndrome

(2019) Alexey Larionov et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Genetic analyses of diverse populations improves discovery for complex traits

(2019) Genevieve L. Wojcik et al.   NATURE

Heritability of blood pressure traits in diverse populations: a systematic review and meta-analysis

(2019) Goodarz Kolifarhood et al.   JOURNAL OF HUMAN HYPERTENSION

A compendium of promoter-centered long-range chromatin interactions in the human genome

(2019) Inkyung Jung et al.   NATURE GENETICS

Spatiotemporal immune zonation of the human kidney

(2019) Benjamin J. Stewart et al.   SCIENCE

MAP2K1 is a potential therapeutic target in erlotinib resistant head and neck squamous cell carcinoma

(2019) Ankit P. Jain et al.   Scientific Reports

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases

(2018) Masahiro Kanai et al.   NATURE GENETICS

From genome-wide associations to candidate causal variants by statistical fine-mapping

(2018) Daniel J. Schaid et al.   NATURE REVIEWS GENETICS

Obligatory and facilitative allelic variation in the DNA methylome within common disease-associated loci

(2018) Christopher G. Bell et al.   Nature Communications

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

(2018) Evangelos Evangelou et al.   NATURE GENETICS

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals

(2018) Ayush Giri et al.   NATURE GENETICS

Mouse Genome Database (MGD) 2019

(2018) Carol J Bult et al.   NUCLEIC ACIDS RESEARCH

Global Burden of Hypertension and Systolic Blood Pressure of at Least 110 to 115 mm Hg, 1990-2015

(2017) Mohammad H. Forouzanfar et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk

(2017) Helen R Warren et al.   NATURE GENETICS

Role of ARHGAP42 in hypertension

(2017) Ellen F. Carney   Nature Reviews Nephrology

The druggable genome and support for target identification and validation in drug development

(2017) Chris Finan et al.   Science Translational Medicine

Functional mapping and annotation of genetic associations with FUMA

(2017) Kyoko Watanabe et al.   Nature Communications

Ferulic acid, a natural polyphenol, alleviates insulin resistance and hypertension in fructose fed rats: Effect on endothelial-dependent relaxation

(2016) Hany El-Bassossy et al.   CHEMICO-BIOLOGICAL INTERACTIONS

Junctophilin-2 gene therapy rescues heart failure by normalizing RyR2-mediated Ca2+ release

(2016) Julia O. Reynolds et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Million Veteran Program: A mega-biobank to study genetic influences on health and disease

(2016) John Michael Gaziano et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci

(2016) Chunyu Liu et al.   NATURE GENETICS

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

(2016) Praveen Surendran et al.   NATURE GENETICS

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

(2016) Georg B Ehret et al.   NATURE GENETICS

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search

(2016) Noa Rappaport et al.   NUCLEIC ACIDS RESEARCH

A Compendium of Chromatin Contact Maps Reveals Spatially Active Regions in the Human Genome

(2016) Anthony D. Schmitt et al.   Cell Reports

Intrinsic FGF2 and FGF5 promotes angiogenesis of human aortic endothelial cells in 3D microfluidic angiogenesis system

(2016) Ha-Rim Seo et al.   Scientific Reports

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

(2015) Michael Zech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Efficacy of Folic Acid Therapy in Primary Prevention of Stroke Among Adults With Hypertension in China

(2015) Yong Huo et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

(2015) Philipp G Maass et al.   NATURE GENETICS

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Joint Analysis of Functional Genomic Data and Genome-wide Association Studies of 18 Human Traits

(2014) Joseph K. Pickrell   AMERICAN JOURNAL OF HUMAN GENETICS

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

(2013) Gautier Koscielny et al.   NUCLEIC ACIDS RESEARCH

Rare, Nonsynonymous Variant in the Smooth Muscle-Specific Isoform of Myosin Heavy Chain, MYH11 , R247C, Alters Force Generation in the Aorta and Phenotype of Smooth Muscle Cells

(2012) Shao-Qing Kuang et al.   CIRCULATION RESEARCH

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Bayesian refinement of association signals for 14 loci in 3 common diseases

(2012) Julian B Maller et al.   NATURE GENETICS

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

(2012) Jian Yang et al.   NATURE GENETICS

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

(2011) Matthew Bower et al.   HUMAN MUTATION

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

(2011) Georg B. Ehret et al.   NATURE

Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians

(2011) Norihiro Kato et al.   NATURE GENETICS

Transcription factor binding predictions using TRAP for the analysis of ChIP-seq data and regulatory SNPs

(2011) Morgane Thomas-Chollier et al.   Nature Protocols

A Novel Mutation of LAMB2 in a Multigenerational Mennonite Family Reveals a New Phenotypic Variant of Pierson Syndrome

(2011) Brian G. Mohney et al.   OPHTHALMOLOGY

REVIGO Summarizes and Visualizes Long Lists of Gene Ontology Terms

(2011) Fran Supek et al.   PLoS One

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Sema4C-Plexin B2 signalling modulates ureteric branching in developing kidney

(2010) Nina Perälä et al.   DIFFERENTIATION

Stromal regulation of vessel stability by MMP14 and TGF 

(2010) N. E. Sounni et al.   Disease Models & Mechanisms

GREAT improves functional interpretation of cis-regulatory regions

(2010) Cory Y McLean et al.   NATURE BIOTECHNOLOGY

Genome-wide association study identifies eight loci associated with blood pressure

(2009) Christopher Newton-Cheh et al.   NATURE GENETICS