Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records

(2021) Kelly M. Schiabor Barrett et al.   GENETICS IN MEDICINE

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

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

(2021) Joseph D. Szustakowski et al.   NATURE GENETICS

Deep learning enables genetic analysis of the human thoracic aorta

(2021) James P. Pirruccello et al.   NATURE GENETICS

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

(2020) F. Kyle Satterstrom et al.   CELL

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts

(2020) Elizabeth T. Cirulli et al.   Nature Communications

Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations

(2020) Il Tae Hwang et al.   Molecular Genetics & Genomic Medicine

Titin Truncating Variants in Adults Without Known Congestive Heart Failure

(2020) James P. Pirruccello et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

(2020) Konrad J. Karczewski et al.   NATURE

DBC1, p300, HDAC3, and Siah1 coordinately regulate ELL stability and function for expression of its target genes

(2020) Subham Basu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy

(2020) James P. Pirruccello et al.   Nature Communications

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

(2020) Ioanna Ntalla et al.   Nature Communications

Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis

(2020) Tom G. Richardson et al.   PLOS MEDICINE

Phenotypic and Genetic Characterization of Lower LDL-C and Increased Type-2 Diabetes Risk in the UK Biobank

(2020) Yann C. Klimentidis et al.   DIABETES

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

Genetics of Hypertriglyceridemia

(2020) Jacqueline S. Dron et al.   Frontiers in Endocrinology

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

(2020) Cristopher V. Van Hout et al.   NATURE

Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery

(2019) Krishna G. Aragam et al.   CIRCULATION

Associations of statin use with glycaemic traits and incident type 2 diabetes

(2019) Fariba Ahmadizar et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Angiopoietin-like 3 Protein Inhibition

(2019) William Lang et al.   Cardiology in Review

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

(2019) Jason Flannick et al.   NATURE

Genetic association testing using the GENESIS R/Bioconductor package

(2019) Stephanie M Gogarten et al.   BIOINFORMATICS

Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants

(2019) Christopher M. Haggerty et al.   CIRCULATION

Rare Protein-Truncating Variants in APOB , Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease

(2019) Gina M. Peloso et al.   Circulation-Genomic and Precision Medicine

Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results from a National Biobank

(2019) Seung Hoan Choi et al.   CIRCULATION RESEARCH

UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-Based Rare-Variant Test

(2019) Zhangchen Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report

(2018) Y. Watanabe et al.   BMC Medical Genetics

PLIN1 haploinsufficiency is not associated with lipodystrophy

(2018) Thomas W Laver et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

PCSK9 Inhibitors: Novel Therapeutic Strategies for Lowering LDL-Cholesterol

(2018) Zhao-Peng Liu et al.   MINI-REVIEWS IN MEDICINAL CHEMISTRY

Multi-ethnic genome-wide association study for atrial fibrillation

(2018) Carolina Roselli et al.   NATURE GENETICS

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

(2018) Connor A. Emdin et al.   Nature Communications

A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature

(2018) M. Crippa et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

(2018) Wei Zhou et al.   NATURE GENETICS

Leveraging Polygenic Functional Enrichment to Improve GWAS Power

(2018) Gleb Kichaev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Population data improves variant interpretation in autosomal dominant polycystic kidney disease

(2018) Amali C. Mallawaarachchi et al.   GENETICS IN MEDICINE

Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation

(2018) Seung Hoan Choi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

(2018) Derek Klarin et al.   NATURE GENETICS

Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

(2018) Gustav Ahlberg et al.   Nature Communications

Rare and low-frequency coding variants alter human adult height

(2017) Eirini Marouli et al.   NATURE

Exome-wide association study of plasma lipids in >300,000 individuals

(2017) Dajiang J Liu et al.   NATURE GENETICS

Genetic Architecture of Familial Hypercholesterolaemia

(2017) Mahtab Sharifi et al.   Current Cardiology Reports

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

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

Association Between Low-Density Lipoprotein Cholesterol–Lowering Genetic Variants and Risk of Type 2 Diabetes

(2016) Luca A. Lotta et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Titin-truncating variants affect heart function in disease cohorts and the general population

(2016) Sebastian Schafer et al.   NATURE GENETICS

Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease

(2016) Frederick E. Dewey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

(2016) Frederick E. Dewey et al.   SCIENCE

Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation

(2015) Ali J. Chakera et al.   DIABETES CARE

Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature

(2015) Sophie R. Wang et al.   HUMAN MUTATION

Genetic studies of body mass index yield new insights for obesity biology

(2015) Adam E. Locke et al.   NATURE

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

(2015) Angharad M. Roberts et al.   Science Translational Medicine

Hepatic SirT1-Dependent Gain of Function of Stearoyl-CoA Desaturase-1 Conveys Dysmetabolic and Tumor Progression Functions

(2015) Li Qiang et al.   Cell Reports

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

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

(2015) Christopher C Chang et al.   GigaScience

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome

(2014) Hannes Steinkellner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

Tissue-specific regulation and function of Grb10 during growth and neuronal commitment

(2014) Robert N. Plasschaert et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome Sequencing Identifies 2 Rare Variants for Low High-Density Lipoprotein Cholesterol in an Extended Family

(2012) M.V. Prasad Linga Reddy et al.   Circulation-Cardiovascular Genetics

The PCSK9 decade

(2012) Gilles Lambert et al.   JOURNAL OF LIPID RESEARCH

Role of liver X receptors in cholesterol efflux and inflammatory signaling (Review)

(2012) RONGTAO ZHU et al.   Molecular Medicine Reports

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Familial spherophakia with short stature caused by a novel homozygousADAMTS17mutation

(2012) Arif O. Khan et al.   OPHTHALMIC GENETICS

IGF1R mutations as cause of SGA

(2011) J. Klammt et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India

(2011) Reena R. Tanjore et al.   CANADIAN JOURNAL OF CARDIOLOGY

Inherited Dysfunction of Sarcoplasmic Reticulum Ca 2+ Handling and Arrhythmogenesis

(2011) Silvia G. Priori et al.   CIRCULATION RESEARCH

Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy

(2011) Sheetal Gandotra et al.   NEW ENGLAND JOURNAL OF MEDICINE

An Iranian-Armenian LDLR frameshift mutation causing familial hypercholesterolemia

(2010) H. K. Jensen et al.   CLINICAL GENETICS

Statins and risk of incident diabetes: a collaborative meta-analysis of randomised statin trials

(2010) Naveed Sattar et al.   LANCET

Hundreds of variants clustered in genomic loci and biological pathways affect human height

(2010) Hana Lango Allen et al.   NATURE

Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia

(2010) Kiran Musunuru et al.   NEW ENGLAND JOURNAL OF MEDICINE

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature

(2009) Jose Morales et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TSHRMutations as a Cause of Congenital Hypothyroidism in Japan: A Population-Based Genetic Epidemiology Study

(2009) Satoshi Narumi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population

(2008) Chiara Sabatti et al.   NATURE GENETICS