Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes

Gene-SCOUT: identifying genes with similar continuous trait fingerprints from phenome-wide association analyses

(2022) Lawrence Middleton et al.   NUCLEIC ACIDS RESEARCH

Cells recognize osmotic stress through liquid–liquid phase separation lubricated with poly(ADP-ribose)

(2021) Kengo Watanabe et al.   Nature Communications

Evolutionary switch in expression of key markers between mouse and human leads to mis-assignment of cell types in developing adrenal medulla

(2021) Polina Kameneva et al.   CANCER CELL

Rare variant contribution to human disease in 281,104 UK Biobank exomes

(2021) Quanli Wang et al.   NATURE

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity

(2021) Parsa Akbari et al.   SCIENCE

Exome sequencing and analysis of 454,787 UK Biobank participants

(2021) Joshua D. Backman et al.   NATURE

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

(2021) Aimee M. Deaton et al.   Scientific Reports

TIGER: The gene expression regulatory variation landscape of human pancreatic islets

(2021) Lorena Alonso et al.   Cell Reports

Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning

(2020) Dimitrios Vitsios et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis

(2020) Marijana Vujkovic et al.   NATURE GENETICS

The STRING database in 2021: customizable protein–protein networks, and functional characterization of user-uploaded gene/measurement sets

(2020) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Open Targets Platform: supporting systematic drug–target identification and prioritisation

(2020) David Ochoa et al.   NUCLEIC ACIDS RESEARCH

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

(2019) Jason Flannick et al.   NATURE

Comprehensive Integration of Single-Cell Data

(2019) Tim Stuart et al.   CELL

WITHDRAWN: Global and regional diabetes prevalence estimates for 2019 and projections for 2030 and 2045: results from the International Diabetes Federation Diabetes Atlas, 9th edition

(2019) Pouya Saeedi et al.   DIABETES RESEARCH AND CLINICAL PRACTICE

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

(2019) Om Prakash Dwivedi et al.   NATURE GENETICS

Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India

(2018) Viswanathan Mohan et al.   BMC Medical Genetics

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease

(2018) Noura S. Abul-Husn et al.   NEW ENGLAND JOURNAL OF MEDICINE

Novel subgroups of adult-onset diabetes and their association with outcomes: a data-driven cluster analysis of six variables

(2018) Emma Ahlqvist et al.   Lancet Diabetes & Endocrinology

Mice harboring the humanSLC30A8R138X loss-of-function mutation have increased insulin secretory capacity

(2018) Sandra Kleiner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft 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

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

(2017) Joshua Traynelis et al.   GENOME RESEARCH

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Single-Cell Transcriptome Profiling of Human Pancreatic Islets in Health and Type 2 Diabetes

(2016) Åsa Segerstolpe et al.   Cell Metabolism

De Novo Prediction of Stem Cell Identity using Single-Cell Transcriptome Data

(2016) Dominic Grün et al.   Cell Stem Cell

Single-cell transcriptomes identify human islet cell signatures and reveal cell-type–specific expression changes in type 2 diabetes

(2016) Nathan Lawlor et al.   GENOME RESEARCH

Diabetes and Cause-Specific Mortality in Mexico City

(2016) Jesus Alegre-Díaz et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Single-Cell Transcriptome Atlas of the Human Pancreas

(2016) Mauro J. Muraro et al.   Cell Systems

A Single-Cell Transcriptomic Map of the Human and Mouse Pancreas Reveals Inter- and Intra-cell Population Structure

(2016) Maayan Baron et al.   Cell Systems

The Genotype-Tissue Expression (GTEx) Project

(2015) Latarsha J. Carithers et al.   BIOPRESERVATION AND BIOBANKING

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

The Genotype-Tissue Expression (GTEx) Project

(2015) Latarsha J. Carithers et al.   Biopreservation and Biobanking

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

(2014) Jason Flannick et al.   NATURE GENETICS

Assessing association between protein truncating variants and quantitative traits

(2013) M. A. Rivas et al.   BIOINFORMATICS

Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico

(2013)   NATURE

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

ASK3 responds to osmotic stress and regulates blood pressure by suppressing WNK1-SPAK/OSR1 signaling in the kidney

(2012) Isao Naguro et al.   Nature Communications

PKCδ regulates hepatic insulin sensitivity and hepatosteatosis in mice and humans

(2011) Olivier Bezy et al.   JOURNAL OF CLINICAL INVESTIGATION

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

The roles of ASK family proteins in stress responses and diseases

(2009) Kazuki Hattori et al.   Cell Communication and Signaling

The Genome-wide Patterns of Variation Expose Significant Substructure in a Founder Population

(2008) Eveliina Jakkula et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Epidemiology of Diabetes and Diabetes-Related Complications

(2008) Anjali D Deshpande et al.   PHYSICAL THERAPY

Dissection of the insulin signaling pathway via quantitative phosphoproteomics

(2008) M. Kruger et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA