Germline Mutations in CIDEB and Protection against Liver Disease

Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations

(2021) Joseph Park et al.   NATURE MEDICINE

Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease

(2021) Oveis Jamialahmadi et al.   GASTROENTEROLOGY

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

(2021) Daniel Taliun et al.   NATURE

Toward a fine-scale population health monitoring system

(2021) Gillian M. Belbin et al.   CELL

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

(2021) Quanli Wang et al.   NATURE

Computationally efficient whole-genome regression for quantitative and binary traits

(2021) Joelle Mbatchou et al.   NATURE GENETICS

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

(2021) Parsa Akbari et al.   SCIENCE

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

(2021) Lucas D. Ward et al.   Nature Communications

Convergent somatic mutations in metabolism genes in chronic liver disease

(2021) Stanley W. K. Ng et al.   NATURE

Exome sequencing and analysis of 454,787 UK Biobank participants

(2021) Joshua D. Backman et al.   NATURE

The global, regional, and national burden of cirrhosis by cause in 195 countries and territories, 1990–2017: a systematic analysis for the Global Burden of Disease Study 2017

(2020) Sadaf G Sepanlou et al.   Lancet Gastroenterology & Hepatology

Nonalcoholic Steatohepatitis

(2020) Adam C. Sheka et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

(2020) Connor A. Emdin et al.   PLoS Genetics

Cideb controls sterol‐regulated ER export of SREBP/SCAP by promoting cargo loading at ER exit sites

(2019) Lu Su et al.   EMBO JOURNAL

CIDE family proteins control lipid homeostasis and the development of metabolic diseases

(2019) Feng‐Jung Chen et al.   TRAFFIC

NASH Leading Cause of Liver Transplant in Women: Updated Analysis of Indications For Liver Transplant and Ethnic and Gender Variances

(2018) Mazen Noureddin et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Relationship between genetic variation at PPP1R3B and levels of liver glycogen and triglyceride

(2018) Stefan Stender et al.   HEPATOLOGY

Modeling NAFLD disease burden in China, France, Germany, Italy, Japan, Spain, United Kingdom, and United States for the period 2016–2030

(2018) Chris Estes et al.   JOURNAL OF HEPATOLOGY

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

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

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Adiposity amplifies the genetic risk of fatty liver disease conferred by multiple loci

(2017) Stefan Stender et al.   NATURE GENETICS

ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries

(2016) Paul Y Kwo et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research

(2016) David J. Carey et al.   GENETICS IN MEDICINE

Differential Roles of Cell Death-inducing DNA Fragmentation Factor-α-like Effector (CIDE) Proteins in Promoting Lipid Droplet Fusion and Growth in Subpopulations of Hepatocytes

(2016) Wenyi Xu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Insulin resistance and white adipose tissue inflammation are uncoupled in energetically challenged Fsp27-deficient mice

(2015) Linkang Zhou et al.   Nature Communications

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

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk

(2014) Oddgeir L Holmen et al.   NATURE GENETICS

Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease

(2014) Julia Kozlitina et al.   NATURE GENETICS

Human serum activates CIDEB-mediated lipid droplet enlargement in hepatoma cells

(2013) Ragunath Singaravelu et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

CideB Protein Is Required for the Biogenesis of Very Low Density Lipoprotein (VLDL) Transport Vesicle

(2013) Samata Tiwari et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Opposing roles of cell death-inducing DFF45-like effector B and perilipin 2 in controlling hepatic VLDL lipidation

(2012) Xuanhe Li et al.   JOURNAL OF LIPID RESEARCH

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

(2011) John C Chambers et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Cideb, an ER- and Lipid Droplet-Associated Protein, Mediates VLDL Lipidation and Maturation by Interacting with Apolipoprotein B

(2009) Jing Ye et al.   Cell Metabolism

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation inCIDEC

(2009) Oscar Rubio-Cabezas et al.   EMBO Molecular Medicine

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

(2008) Stefano Romeo et al.   NATURE GENETICS