Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen

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

(2021) Daniel Taliun et al.   NATURE

Computationally efficient whole-genome regression for quantitative and binary traits

(2021) Joelle Mbatchou et al.   NATURE GENETICS

Fibrin(ogen) in human disease: both friend and foe

(2020) Rui Vilar et al.   HAEMATOLOGICA

B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature

(2020) Orna Staretz‐Chacham et al.   CLINICAL GENETICS

Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease

(2019) Cavin K. Ward-Caviness et al.   PLoS One

AnAPOOPseudogene on Chromosome 5q is Associated with LDL-C Levels

(2018) May E. Montasser et al.   CIRCULATION

Heart Disease and Stroke Statistics—2018 Update: A Report From the American Heart Association

(2018) Emelia J. Benjamin et al.   CIRCULATION

Glycosylation Profile of Immunoglobulin G Is Cross-Sectionally Associated With Cardiovascular Disease Risk Score and Subclinical Atherosclerosis in Two Independent CohortsNovelty and Significance

(2018) Cristina Menni et al.   CIRCULATION RESEARCH

A large electronic-health-record-based genome-wide study of serum lipids

(2018) Thomas J. Hoffmann et al.   NATURE GENETICS

The changes of immunoglobulin G N-glycosylation in blood lipids and dyslipidaemia

(2018) Di Liu et al.   Journal of Translational Medicine

The dimeric structure of wild-type human glycosyltransferase B4GalT1

(2018) Deborah Harrus et al.   PLoS One

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program

(2018) Derek Klarin et al.   NATURE GENETICS

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

(2017) Celia Pérez-Cerdá et al.   JOURNAL OF PEDIATRICS

Gene Expression Differences Between Offspring of Long-Lived Individuals and Controls in Candidate Longevity Regions: Evidence forPAPSS2as a Longevity Gene

(2016) Laura M. Yerges-Armstrong et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

A thrifty variant in CREBRF strongly influences body mass index in Samoans

(2016) Ryan L Minster et al.   NATURE GENETICS

Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease

(2016) Anna Helgadottir et al.   NATURE GENETICS

VariantASGR1Associated with a Reduced Risk of Coronary Artery Disease

(2016) Paul Nioi et al.   NEW ENGLAND JOURNAL OF MEDICINE

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Glucose-Mediated N-glycosylation of SCAP Is Essential for SREBP-1 Activation and Tumor Growth

(2015) Chunming Cheng et al.   CANCER CELL

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

(2015) Paul S. de Vries et al.   HUMAN MOLECULAR GENETICS

The impact of low-frequency and rare variants on lipid levels

(2015) Ida Surakka et al.   NATURE GENETICS

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

(2015) Carlo Sidore et al.   NATURE GENETICS

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

(2014) Leslie A. Lange et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Toward better understanding of artifacts in variant calling from high-coverage samples

(2014) Heng Li   BIOINFORMATICS

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

(2014) Ida Moltke et al.   NATURE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Null Mutation in Hormone-Sensitive Lipase Gene and Risk of Type 2 Diabetes

(2014) Jessica S. Albert et al.   NEW ENGLAND JOURNAL OF MEDICINE

Elucidating the role of carbohydrate determinants in regulating hemostasis: insights and opportunities

(2013) R. J. S. Preston et al.   BLOOD

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

Loci Associated with N-Glycosylation of Human Immunoglobulin G Show Pleiotropy with Autoimmune Diseases and Haematological Cancers

(2013) Gordan Lauc et al.   PLoS Genetics

The ABCG8 G574R Variant, Serum Plant Sterol Levels, and Cardiovascular Disease Risk in the Old Order Amish

(2012) Richard B. Horenstein et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

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

(2012) Bryan Howie et al.   NATURE GENETICS

Hyperlipidemia as a Risk Factor for Cardiovascular Disease

(2012) Robert H. Nelson   PRIMARY CARE

Increasing Power of Groupwise Association Test with Likelihood Ratio Test

(2011) Jae Hoon Sul et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement

(2011) Maïlys Guillard et al.   JOURNAL OF PEDIATRICS

Familial Defective Apolipoprotein B-100 and Increased Low-Density Lipoprotein Cholesterol and Coronary Artery Calcification in the Old Order Amish

(2010) Haiqing Shen et al.   ARCHIVES OF INTERNAL MEDICINE

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model

(2009) Ethan Daley et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The genetic response to short-term interventions affecting cardiovascular function: Rationale and design of the Heredity and Phenotype Intervention (HAPI) Heart Study

(2008) Braxton D. Mitchell et al.   AMERICAN HEART JOURNAL

Genetic and environmental influences on systemic markers of inflammation in middle-aged male twins

(2008) Shaoyong Su et al.   ATHEROSCLEROSIS

Structure and Function of β -1,4-Galactosyltransferase

(2008) Pradman Qasba et al.   CURRENT DRUG TARGETS

A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection

(2008) T. I. Pollin et al.   SCIENCE