A cross-platform approach identifies genetic regulators of human metabolism and health

Metabolomics for Investigating Physiological and Pathophysiological Processes

(2019) David S. Wishart   PHYSIOLOGICAL REVIEWS

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

(2019) Marin L. Gantner et al.   NEW ENGLAND JOURNAL OF MEDICINE

A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context

(2019) Apolline Gallois et al.   Nature Communications

Descriptive epidemiology of physical activity energy expenditure in UK adults (The Fenland study)

(2019) Tim Lindsay et al.   International Journal of Behavioral Nutrition and Physical Activity

Genomic atlas of the human plasma proteome

(2018) Benjamin B. Sun et al.   NATURE

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

(2018) Anubha Mahajan et al.   NATURE GENETICS

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

(2017) Jessica J Y Lee et al.   GENETICS IN MEDICINE

Efficiency and safety of varying the frequency of whole blood donation (INTERVAL): a randomised trial of 45 000 donors

(2017) Emanuele Di Angelantonio et al.   LANCET

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites

(2017) Tao Long et al.   NATURE GENETICS

Genome-wide analyses identify common variants associated with macular telangiectasia type 2

(2017) Thomas S Scerri et al.   NATURE GENETICS

HMDB 4.0: the human metabolome database for 2018

(2017) David S Wishart et al.   NUCLEIC ACIDS RESEARCH

Citrulline as a marker of intestinal function and absorption in clinical settings: A systematic review and meta-analysis

(2017) Konstantinos C. Fragkos et al.   United European Gastroenterology Journal

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

(2016) William J. Astle et al.   CELL

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

UniProt: the universal protein knowledgebase

(2016)   NUCLEIC ACIDS RESEARCH

KEGG: new perspectives on genomes, pathways, diseases and drugs

(2016) Minoru Kanehisa et al.   NUCLEIC ACIDS RESEARCH

Genetic Influences on Metabolite Levels: A Comparison across Metabolomic Platforms

(2016) Idil Yet et al.   PLoS One

An exome array study of the plasma metabolome

(2016) Eugene P. Rhee et al.   Nature Communications

Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA

(2016) Johannes Kettunen et al.   Nature Communications

Multivariable Mendelian Randomization: The Use of Pleiotropic Genetic Variants to Estimate Causal Effects

(2015) S. Burgess et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels

(2015) Harmen H. M. Draisma et al.   Nature Communications

An atlas of genetic influences on human blood metabolites

(2014) So-Youn Shin et al.   NATURE GENETICS

The INTERVAL trial to determine whether intervals between blood donations can be safely and acceptably decreased to optimise blood supply: study protocol for a randomised controlled trial

(2014) Carmel Moore et al.   Trials

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

(2014) Claudia Giambartolomei et al.   PLoS Genetics

A Genome-wide Association Study of the Human Metabolome in a Community-Based Cohort

(2013) Eugene P. Rhee et al.   Cell Metabolism

Mendelian Randomization Analysis With Multiple Genetic Variants Using Summarized Data

(2013) Stephen Burgess et al.   GENETIC EPIDEMIOLOGY

Targeted profiling of atherogenic phospholipids in human plasma and lipoproteins of hyperlipidemic patients using MALDI-QIT-TOF-MS/MS

(2012) Gerald Stübiger et al.   ATHEROSCLEROSIS

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

(2012) Ana Rath et al.   HUMAN MUTATION

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

Human metabolic individuality in biomedical and pharmaceutical research

(2011) Karsten Suhre et al.   NATURE

High-throughput serum NMR metabonomics for cost-effective holistic studies on systemic metabolism

(2009) Pasi Soininen et al.   ANALYST

A genome-wide perspective of genetic variation in human metabolism

(2009) Thomas Illig et al.   NATURE GENETICS

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

(2008) Christina B. Pedersen et al.   HUMAN GENETICS