Publications
We have created extensive scholarship around method development and analysis of genetic data in humans, the central focus of my lab.
My roots began in population genetics, aiming to understand how the genome reveals details of our evolutionary history. Today, we are very are active in the development of methods in population genomics, which include characterization of mutation rates and studies of natural selection in human populations.
We are actively interested in the genetic dissection of complex traits. The statistical pipelines that we have developed and applied over my career have resulting in discovery of thousands of loci for complex traits, focused on type 2 diabetes, cardiovascular disease, and liver disease. This also include mapping of genetic variation associated with molecular phenotypes (eQTLs, sQTLs, caQTLs, etc.) using bulk tissue, cell model, and even single-cell resources in tissues relevant to these endpoints (e.g., pancreas).
We also have an active interest in the application of Mendelian randomization (MR) to evaluate causal hypotheses between biomarkers and cardiometabolic endpoints, including most famously rejecting a protective role for HDL Cholesterol in heart disease.
I need to prettify the publication listing below (Work in progress)!
But feel free to follow the Pubmed and Google Scholar links below to see a full list of my publications.
All
Selected Works:
Discipline/Approach Areas:
Phenotypic Areas:
Consortia Work:
Approaches/Software:
2024
Characterization of non-coding variants associated with transcription factor binding through ATAC-seq-defined footprint QTLs in liver
Cold Spring Harbor Laboratory
·
25 Sep 2024
·
doi:10.1101/2024.09.24.614730
Genotype inference from aggregated chromatin accessibility data reveals genetic regulatory mechanisms
Cold Spring Harbor Laboratory
·
05 Sep 2024
·
doi:10.1101/2024.09.04.610850
Mendelian randomization analyses clarify the effects of height on cardiovascular diseases
PLOS ONE
·
03 Jul 2024
·
doi:10.1371/journal.pone.0298786
Clinical and genetic risk factors for progressive fibrosis in metabolic dysfunction–associated steatotic liver disease
Hepatology Communications
·
01 Jul 2024
·
doi:10.1097/HC9.0000000000000487
Dietary preference and susceptibility to type 2 diabetes mellitus: a wide-angle Mendelian randomization study
Cold Spring Harbor Laboratory
·
06 May 2024
·
doi:10.1101/2024.05.05.24306877
Evaluation of Plasma Biomarkers for Causal Association With Peripheral Artery Disease
Arteriosclerosis, Thrombosis, and Vascular Biology
·
01 May 2024
·
doi:10.1161/ATVBAHA.124.320674
Major Depressive Disorder Impacts Peripheral Artery Disease Risk Through Intermediary Risk Factors
Journal of the American Heart Association
·
20 Feb 2024
·
doi:10.1161/JAHA.123.030233
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
Nature
·
19 Feb 2024
·
doi:10.1038/s41586-024-07019-6
Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes
Genome Biology
·
16 Jan 2024
·
doi:10.1186/s13059-023-03136-z
2023
Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms
Nature Communications
·
09 Sep 2023
·
doi:10.1038/s41467-023-41057-4
Deciphering the genetic architecture of atrial fibrillation offers insights into disease prediction, pathophysiology and downstream sequelae
Cold Spring Harbor Laboratory
·
25 Jul 2023
·
doi:10.1101/2023.07.20.23292938
Regularized sequence-context mutational trees capture variation in mutation rates across the human genome
PLOS Genetics
·
07 Jul 2023
·
doi:10.1371/journal.pgen.1010807
Evaluating the Contribution of Cell Type–Specific Alternative Splicing to Variation in Lipid Levels
Circulation: Genomic and Precision Medicine
·
01 Jun 2023
·
doi:10.1161/CIRCGEN.120.003249
Evaluating the Contribution of Cell Type–Specific Alternative Splicing to Variation in Lipid Levels
Circulation: Genomic and Precision Medicine
·
01 Jun 2023
·
doi:10.1161/circgen.120.003249
G6PC2 controls glucagon secretion by defining the setpoint for glucose in pancreatic α-cells
Cold Spring Harbor Laboratory
·
24 May 2023
·
doi:10.1101/2023.05.23.541901
Genetically proxied glucose-lowering drug target perturbation and risk of cancer: a Mendelian randomisation analysis
Diabetologia
·
12 May 2023
·
doi:10.1007/s00125-023-05925-4
Evaluation of the Performance of the RECODe Equation with the Addition of Polygenic Risk Scores for Adverse Cardiovascular Outcomes in Individuals with Type II Diabetes
Cold Spring Harbor Laboratory
·
05 May 2023
·
doi:10.1101/2023.05.03.23289457
Evaluation of plasma biomarkers for causal association with peripheral artery disease
Cold Spring Harbor Laboratory
·
05 May 2023
·
doi:10.1101/2023.05.05.23289560
Mendelian Randomization Analysis Reveals a Complex Genetic Interplay among Atopic Dermatitis, Asthma, and Gastroesophageal Reflux Disease
American Journal of Respiratory and Critical Care Medicine
·
15 Jan 2023
·
doi:10.1164/rccm.202205-0951OC
Mendelian Randomization Analysis Reveals a Complex Genetic Interplay among Atopic Dermatitis, Asthma, and Gastroesophageal Reflux Disease
American Journal of Respiratory and Critical Care Medicine
·
15 Jan 2023
·
doi:10.1164/rccm.202205-0951oc
2022
Genomics and phenomics of body mass index reveals a complex disease network
Nature Communications
·
29 Dec 2022
·
doi:10.1038/s41467-022-35553-2
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure
Nature Communications
·
14 Nov 2022
·
doi:10.1038/s41467-022-34216-6
Regularized sequence-context mutational trees capture variation in mutation rates across the human genome
Cold Spring Harbor Laboratory
·
17 Oct 2022
·
doi:10.1101/2022.10.14.512160
Estimating the effect size of a hidden causal factor between SNPs and a continuous trait: a mediation model approach
BMC Bioinformatics
·
13 Oct 2022
·
doi:10.1186/s12859-022-04977-4
Identifying rare variants inconsistent with identity‐by‐descent in population‐scale whole‐genome sequencing data
Methods in Ecology and Evolution
·
11 Oct 2022
·
doi:10.1111/2041-210X.13991
Polygenic Risk Scores in Alzheimer’s Disease Genetics: Methodology, Applications, Inclusion, and Diversity
Journal of Alzheimer's Disease
·
30 Aug 2022
·
doi:10.3233/JAD-220025
Large-scale genome-wide association study of coronary artery disease in genetically diverse populations
Nature Medicine
·
01 Aug 2022
·
doi:10.1038/s41591-022-01891-3
ColocQuiaL: a QTL-GWAS colocalization pipeline
Bioinformatics
·
27 Jul 2022
·
doi:10.1093/bioinformatics/btac512
Estimating the effect size of a hidden causal factor between SNPs and a continuous trait: a mediation model approach
Cold Spring Harbor Laboratory
·
29 Jun 2022
·
doi:10.1101/2022.06.28.497617
Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease
Nature Genetics
·
16 Jun 2022
·
doi:10.1038/s41588-022-01097-w
TSABL: Trait Specific Annotation Based Locus predictor
BMC Genomics
·
15 Jun 2022
·
doi:10.1186/s12864-022-08654-x
Characterization of the genome and silk-gland transcriptomes of Darwin’s bark spider (Caerostris darwini)
PLOS ONE
·
06 Jun 2022
·
doi:10.1371/journal.pone.0268660
A multi-population phenome-wide association study of genetically-predicted height in the Million Veteran Program
PLOS Genetics
·
02 Jun 2022
·
doi:10.1371/journal.pgen.1010193
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation
Nature Genetics
·
01 Jun 2022
·
doi:10.1038/s41588-022-01078-z
Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations
Journal of Thrombosis and Haemostasis
·
01 Jun 2022
·
doi:10.1111/jth.15698
A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program
PLOS Genetics
·
28 Apr 2022
·
doi:10.1371/journal.pgen.1010113
Body mass index and adipose distribution have opposing genetic impacts on human blood traits
eLife
·
15 Feb 2022
·
doi:10.7554/eLife.75317
Body mass index and adipose distribution have opposing genetic impacts on human blood traits
eLife
·
15 Feb 2022
·
doi:10.7554/elife.75317
Separating the direct effects of traits on atherosclerotic cardiovascular disease from those mediated by type 2 diabetes
Diabetologia
·
07 Feb 2022
·
doi:10.1007/s00125-022-05653-1
Multi-Trait Genome-Wide Association Study of Atherosclerosis Detects Novel Pleiotropic Loci
Frontiers in Genetics
·
02 Feb 2022
·
doi:10.3389/fgene.2021.787545
2021
Mendelian randomization analyses clarify the effects of height on cardiovascular diseases
Cold Spring Harbor Laboratory
·
17 Dec 2021
·
doi:10.1101/2021.12.16.21267869
Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits
Nature Communications
·
19 Nov 2021
·
doi:10.1038/s41467-021-27001-4
ColocQuiaL: A QTL-GWAS colocalization pipeline
Cold Spring Harbor Laboratory
·
09 Nov 2021
·
doi:10.1101/2021.11.05.21265991
Obesity and adiposity have opposing genetic impacts on human blood traits
Cold Spring Harbor Laboratory
·
07 Nov 2021
·
doi:10.1101/2021.11.05.467482
A Missense Variant in the IL-6 Receptor and Protection From Peripheral Artery Disease
Circulation Research
·
29 Oct 2021
·
doi:10.1161/CIRCRESAHA.121.319589
TSABL: Trait Specific Annotation Based Locus Predictor
Cold Spring Harbor Laboratory
·
29 Sep 2021
·
doi:10.1101/2021.09.27.21264198
Evaluation of height as a disease risk factor through a phenome-wide association study of genetically-predicted height
Cold Spring Harbor Laboratory
·
30 Aug 2021
·
doi:10.1101/2021.08.29.21262793
A single genetic locus controls both expression of DPEP1/CHMP1A and kidney disease development via ferroptosis
Nature Communications
·
23 Aug 2021
·
doi:10.1038/s41467-021-25377-x
Mapping the genetic architecture of human traits to cell types in the kidney identifies mechanisms of disease and potential treatments
Nature Genetics
·
12 Aug 2021
·
doi:10.1038/s41588-021-00909-9
Separating the direct effects of risk factors for atherosclerotic cardiovascular disease from those mediated by type 2 diabetes
Cold Spring Harbor Laboratory
·
07 Aug 2021
·
doi:10.1101/2021.08.05.21261658
Multi-ancestry Multivariate Genome-Wide Analysis Highlights the Role of Common Genetic Variation in Cardiac Structure, Function, and Heart Failure-related Traits
Cold Spring Harbor Laboratory
·
05 Aug 2021
·
doi:10.1101/2021.08.03.21261508
Prioritizing the Role of Major Lipoproteins and Subfractions as Risk Factors for Peripheral Artery Disease
Circulation
·
03 Aug 2021
·
doi:10.1161/CIRCULATIONAHA.121.053797
Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms
Cold Spring Harbor Laboratory
·
06 Jul 2021
·
doi:10.1101/2021.07.05.450786
Genetic Evidence for Repurposing of GLP1R (Glucagon‐Like Peptide‐1 Receptor) Agonists to Prevent Heart Failure
Journal of the American Heart Association
·
06 Jul 2021
·
doi:10.1161/JAHA.120.020331
A unified framework identifies new links between plasma lipids and diseases from electronic medical records across large-scale cohorts
Nature Genetics
·
17 Jun 2021
·
doi:10.1038/s41588-021-00879-y
Association Between Genetic Variation in Blood Pressure and Increased Lifetime Risk of Peripheral Artery Disease
Arteriosclerosis, Thrombosis, and Vascular Biology
·
01 Jun 2021
·
doi:10.1161/ATVBAHA.120.315482
Multi-trait GWAS of atherosclerosis detects novel pleiotropic loci
Cold Spring Harbor Laboratory
·
23 May 2021
·
doi:10.1101/2021.05.21.21257493
A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program
Cold Spring Harbor Laboratory
·
23 May 2021
·
doi:10.1101/2021.05.18.21257396
Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes
Nature Communications
·
10 May 2021
·
doi:10.1038/s41467-021-22338-2
Multi-trait association studies discover pleiotropic loci between Alzheimer’s disease and cardiometabolic traits
Alzheimer's Research & Therapy
·
04 Feb 2021
·
doi:10.1186/s13195-021-00773-z
Genetics of Smoking and Risk of Atherosclerotic Cardiovascular Diseases
JAMA Network Open
·
19 Jan 2021
·
doi:10.1001/jamanetworkopen.2020.34461
Prioritizing the Role of Major Lipoproteins and Subfractions as Risk Factors for Peripheral Artery Disease
Cold Spring Harbor Laboratory
·
15 Jan 2021
·
doi:10.1101/2021.01.11.21249148
Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual
Genome Biology
·
04 Jan 2021
·
doi:10.1186/s13059-020-02207-9
A trans-ancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation
Cold Spring Harbor Laboratory
·
02 Jan 2021
·
doi:10.1101/2020.12.26.20248491
2020
Golden orb-weaving spider (Trichonephila clavipes) silk genes with sex-biased expression and atypical architectures
G3 Genes|Genomes|Genetics
·
22 Dec 2020
·
doi:10.1093/G3JOURNAL/JKAA039
Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus
Circulation: Genomic and Precision Medicine
·
01 Dec 2020
·
doi:10.1161/CIRCGEN.119.002769
Mapping the genetic architecture of human traits to cell types in the kidney identifies mechanisms of disease and potential treatments
Cold Spring Harbor Laboratory
·
10 Nov 2020
·
doi:10.1101/2020.11.09.375592
Genetics of height and risk of atrial fibrillation: A Mendelian randomization study
PLOS Medicine
·
08 Oct 2020
·
doi:10.1371/journal.pmed.1003288
The relationship between circulating lipids and breast cancer risk: A Mendelian randomization study
PLOS Medicine
·
11 Sep 2020
·
doi:10.1371/journal.pmed.1003302
Multi-trait association studies discover pleiotropic loci between Alzheimer’s disease and cardiometabolic traits
Cold Spring Harbor Laboratory
·
01 Sep 2020
·
doi:10.1101/2020.08.26.20179366
Validating a non-invasive, ALT-based non-alcoholic fatty liver phenotype in the million veteran program
PLOS ONE
·
25 Aug 2020
·
doi:10.1371/journal.pone.0237430
Genetic Variation in Blood Pressure and Lifetime Risk of Peripheral Artery Disease: A Mendelian Randomization Study
Cold Spring Harbor Laboratory
·
25 Aug 2020
·
doi:10.1101/2020.08.23.20180240
Genetic determinants of increased body mass index mediate the effect of smoking on increased risk for type 2 diabetes but not coronary artery disease
Human Molecular Genetics
·
24 Aug 2020
·
doi:10.1093/hmg/ddaa193
Type 1 diabetes in Africa: an immunogenetic study in the Amhara of North-West Ethiopia
Diabetologia
·
23 Jul 2020
·
doi:10.1007/s00125-020-05229-x
Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits
Cold Spring Harbor Laboratory
·
06 Jul 2020
·
doi:10.1101/2020.07.06.146951
Genetic colocalization atlas points to common regulatory sites and genes for hematopoietic traits and hematopoietic contributions to disease phenotypes
BMC Medical Genomics
·
29 Jun 2020
·
doi:10.1186/s12920-020-00742-9
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
Nature Genetics
·
15 Jun 2020
·
doi:10.1038/s41588-020-0637-y
Genetically Determined Birthweight Associates With Atrial Fibrillation
Circulation: Genomic and Precision Medicine
·
01 Jun 2020
·
doi:10.1161/CIRCGEN.119.002553
Identifying non-identical-by-descent rare variants in population-scale whole genome sequencing data
Cold Spring Harbor Laboratory
·
28 May 2020
·
doi:10.1101/2020.05.26.117358
Tropomyosin 1 genetically constrains in vitro hematopoiesis
BMC Biology
·
14 May 2020
·
doi:10.1186/s12915-020-00783-7
Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache
International Journal of Epidemiology
·
19 Apr 2020
·
doi:10.1093/IJE/DYAA050
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease
PLOS Genetics
·
13 Apr 2020
·
doi:10.1371/journal.pgen.1008629
Genetics of Smoking and Risk of Atherosclerotic Cardiovascular Diseases: A Mendelian Randomization Study
Cold Spring Harbor Laboratory
·
08 Apr 2020
·
doi:10.1101/2020.04.07.20053447
Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual through variant-to-gene mapping
Cold Spring Harbor Laboratory
·
20 Feb 2020
·
doi:10.1101/2020.02.17.20024133
Genetically determined body mass index mediates the effect of smoking on type 2 diabetes risk, but not coronary artery disease risk
Cold Spring Harbor Laboratory
·
03 Feb 2020
·
doi:10.1101/2020.01.30.20019737
BetaScan2: Standardized Statistics to Detect Balancing Selection Utilizing Substitution Data
Genome Biology and Evolution
·
01 Feb 2020
·
doi:10.1093/gbe/evaa013
2019
Genetics of Height and Risk of Atrial Fibrillation: A Mendelian Randomization Study
Cold Spring Harbor Laboratory
·
30 Dec 2019
·
doi:10.1101/2019.12.23.19015743
Genetic Discrimination Between LADA and Childhood-Onset Type 1 Diabetes Within the MHC
Diabetes Care
·
16 Dec 2019
·
doi:10.2337/dc19-0986
Discovery of 318 novel loci for type-2 diabetes and related micro- and macrovascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis
Cold Spring Harbor Laboratory
·
25 Nov 2019
·
doi:10.1101/19012690
Natural human genetic variation determines basal and inducible expression of
PM20D1
, an obesity-associated gene
Proceedings of the National Academy of Sciences
·
28 Oct 2019
·
doi:10.1073/pnas.1913199116
Assessing a causal relationship between circulating lipids and breast cancer risk: Mendelian randomization study
Cold Spring Harbor Laboratory
·
06 Oct 2019
·
doi:10.1101/794594
Genetic colocalization atlas points to common regulatory sites and genes for hematopoietic traits and hematopoietic contributions to disease phenotypes
Cold Spring Harbor Laboratory
·
30 Sep 2019
·
doi:10.1101/787333
Projected Prevalence of Actionable Pharmacogenetic Variants and Level A Drugs Prescribed Among US Veterans Health Administration Pharmacy Users
JAMA Network Open
·
07 Jun 2019
·
doi:10.1001/jamanetworkopen.2019.5345
Evaluating the contribution of cell-type specific alternative splicing to variation in lipid levels
Cold Spring Harbor Laboratory
·
04 Jun 2019
·
doi:10.1101/659326
Tropomyosin 1 genetically constrains in vitro hematopoiesis
Cold Spring Harbor Laboratory
·
08 May 2019
·
doi:10.1101/631895
Postmenopausal osteoporotic fracture-associated COLIA1 variant impacts bone accretion in girls
Bone
·
01 Apr 2019
·
doi:10.1016/j.bone.2019.01.026
Signals of Variation in Human Mutation Rate at Multiple Levels of Sequence Context
Molecular Biology and Evolution
·
07 Feb 2019
·
doi:10.1093/molbev/msz023
Keen on the tenure track job, are you? Know these things, you should
Genome Biology
·
07 Jan 2019
·
doi:10.1186/s13059-018-1617-8
2018
BetaScan2: Standardized statistics to detect balancing selection utilizing substitution data:
Cold Spring Harbor Laboratory
·
17 Dec 2018
·
doi:10.1101/497255
Bivariate Genome-Wide Association Scan Identifies 6 Novel Loci Associated With Lipid Levels and Coronary Artery Disease
Circulation: Genomic and Precision Medicine
·
01 Dec 2018
·
doi:10.1161/CIRCGEN.118.002239
First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes
Diabetes Care
·
15 Oct 2018
·
doi:10.2337/dc18-1032
Signals of variation in human mutation rate at multiple levels of sequence context
Cold Spring Harbor Laboratory
·
04 Aug 2018
·
doi:10.1101/385096
Multiplexed Targeted Resequencing Identifies Coding and Regulatory Variation Underlying Phenotypic Extremes of High-Density Lipoprotein Cholesterol in Humans
Circulation: Genomic and Precision Medicine
·
01 Jul 2018
·
doi:10.1161/CIRCGEN.117.002070
Dissecting an adiposity locus with an arsenal of genomics
Genome Biology
·
07 Jun 2018
·
doi:10.1186/s13059-018-1460-y
Bivariate GWAS scan identifies six novel loci associated with lipid levels and coronary artery disease
Cold Spring Harbor Laboratory
·
11 May 2018
·
doi:10.1101/319848
Patterns of shared signatures of recent positive selection across human populations
Nature Ecology & Evolution
·
19 Feb 2018
·
doi:10.1038/s41559-018-0478-6
2017
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
Scientific Data
·
19 Dec 2017
·
doi:10.1038/sdata.2017.179
Multiplexed targeted resequencing identifies coding and regulatory variation underlying phenotypic extremes of HDL-cholesterol in humans
Cold Spring Harbor Laboratory
·
18 Dec 2017
·
doi:10.1101/235887
Genetically Determined Later Puberty Impacts Lowered Bone Mineral Density in Childhood and Adulthood
Journal of Bone and Mineral Research
·
25 Oct 2017
·
doi:10.1002/jbmr.3320
Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease
Nature Genetics
·
04 Sep 2017
·
doi:10.1038/ng.3943
Detecting Long-Term Balancing Selection Using Allele Frequency Correlation
Molecular Biology and Evolution
·
21 Jul 2017
·
doi:10.1093/molbev/msx209
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans
Diabetes
·
31 May 2017
·
doi:10.2337/db16-1253
Gene Set Enrichment Analyses: lessons learned from the heart failure phenotype
BioData Mining
·
26 May 2017
·
doi:10.1186/s13040-017-0137-5
The Nephila clavipes genome highlights the diversity of spider silk genes and their complex expression
Nature Genetics
·
01 May 2017
·
doi:10.1038/ng.3852
Relative contribution of type 1 and type 2 diabetes loci to the genetic etiology of adult-onset, non-insulin-requiring autoimmune diabetes
BMC Medicine
·
25 Apr 2017
·
doi:10.1186/s12916-017-0846-0
Large-Scale trans -eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation
The American Journal of Human Genetics
·
01 Apr 2017
·
doi:10.1016/j.ajhg.2017.02.004
Detecting Long-term Balancing Selection using Allele Frequency Correlation
Cold Spring Harbor Laboratory
·
01 Mar 2017
·
doi:10.1101/112870
Patterns of shared signatures of recent positive selection across human populations
Cold Spring Harbor Laboratory
·
17 Feb 2017
·
doi:10.1101/109371
De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm
BMC Genomics
·
14 Feb 2017
·
doi:10.1186/s12864-017-3522-z
2016
Serum calcium and risk of migraine: a Mendelian randomization study
Human Molecular Genetics
·
26 Dec 2016
·
doi:10.1093/hmg/ddw416
Type 2 Diabetes Genes Gleaned by Making a β-Cell Screen Routine
Diabetes
·
12 Nov 2016
·
doi:10.2337/dbi16-0054
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses
Bone
·
01 Nov 2016
·
doi:10.1016/j.bone.2016.09.005
Systolic Blood Pressure and Risk of Type 2 Diabetes: A Mendelian Randomization Study
Diabetes
·
04 Oct 2016
·
doi:10.2337/db16-0868
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals
Nature Genetics
·
12 Sep 2016
·
doi:10.1038/ng.3667
Disentangling the Causal Association of Plasma Lipid Traits and Type 2 Diabetes Using Human Genetics
JAMA Cardiology
·
01 Sep 2016
·
doi:10.1001/jamacardio.2016.2298
The genetic architecture of type 2 diabetes
Nature
·
11 Jul 2016
·
doi:10.1038/nature18642
Pathway and network-based strategies to translate genetic discoveries into effective therapies
Human Molecular Genetics
·
23 Jun 2016
·
doi:10.1093/hmg/ddw160
Large-scaletrans-eQTLs affect hundreds of transcripts and mediate patterns of transcriptional co-regulation Short:trans-eQTLs reveal patterns of transcriptional co-regulation
Cold Spring Harbor Laboratory
·
31 May 2016
·
doi:10.1101/056283
An expanded sequence context model broadly explains variability in polymorphism levels across the human genome
Nature Genetics
·
15 Feb 2016
·
doi:10.1038/ng.3511
Human genetics shines a light on ischaemic stroke
The Lancet Neurology
·
01 Feb 2016
·
doi:10.1016/S1474-4422(15)00400-7
Causal Assessment of Serum Urate Levels in Cardiometabolic Diseases Through a Mendelian Randomization Study
Journal of the American College of Cardiology
·
01 Feb 2016
·
doi:10.1016/j.jacc.2015.10.086
Causal Inference in Medicine via Mendelian Randomization
The Genetics of Type 2 Diabetes and Related Traits
·
01 Jan 2016
·
doi:10.1007/978-3-319-01574-3_24
2015
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
Nature Genetics
·
09 Nov 2015
·
doi:10.1038/ng.3437
Genetic variants primarily associated with type 2 diabetes are related to coronary artery disease risk
Atherosclerosis
·
01 Aug 2015
·
doi:10.1016/j.atherosclerosis.2015.05.033
Genetic Variation Determines PPARγ Function and Anti-diabetic Drug Response In Vivo
Cell
·
01 Jul 2015
·
doi:10.1016/j.cell.2015.06.025
2014
MeRP: a high-throughput pipeline for Mendelian randomization analysis
Bioinformatics
·
10 Nov 2014
·
doi:10.1093/bioinformatics/btu742
MR_predictor: a simulation engine for Mendelian Randomization studies
Bioinformatics
·
26 Aug 2014
·
doi:10.1093/bioinformatics/btu564
Pleiotropic genes for metabolic syndrome and inflammation
Molecular Genetics and Metabolism
·
01 Aug 2014
·
doi:10.1016/j.ymgme.2014.04.007
A Central Role for GRB10 in Regulation of Islet Function in Man
PLoS Genetics
·
03 Apr 2014
·
doi:10.1371/journal.pgen.1004235
Guidelines for investigating causality of sequence variants in human disease
Nature
·
01 Apr 2014
·
doi:10.1038/nature13127
SORT
ing Out That Pesky Cholesterol
Science Translational Medicine
·
05 Mar 2014
·
doi:10.1126/scitranslmed.3008715
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
Nature Genetics
·
02 Mar 2014
·
doi:10.1038/ng.2915
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
Nature Genetics
·
09 Feb 2014
·
doi:10.1038/ng.2897
A Metabolic Relic
Science Translational Medicine
·
22 Jan 2014
·
doi:10.1126/scitranslmed.3008436
2013
Right Place, Right Time
Science Translational Medicine
·
04 Dec 2013
·
doi:10.1126/scitranslmed.3008007
Thinking Before We Act
Science Translational Medicine
·
23 Oct 2013
·
doi:10.1126/scitranslmed.3007770
Discovery and refinement of loci associated with lipid levels
Nature Genetics
·
06 Oct 2013
·
doi:10.1038/ng.2797
Common variants associated with plasma triglycerides and risk for coronary artery disease
Nature Genetics
·
06 Oct 2013
·
doi:10.1038/ng.2795
Ironing Out Parkinson’s Disease
Science Translational Medicine
·
31 Jul 2013
·
doi:10.1126/scitranslmed.3007047
RA-
cing Toward Drugs from a Genetics Starting Line
Science Translational Medicine
·
19 Jun 2013
·
doi:10.1126/scitranslmed.3006750
From Mouse to Human: Evolutionary Genomics Analysis of Human Orthologs of Essential Genes
PLoS Genetics
·
09 May 2013
·
doi:10.1371/journal.pgen.1003484
Eavesdropping on Communications Between Liver and β Cells
Science Translational Medicine
·
08 May 2013
·
doi:10.1126/scitranslmed.3006452
Accessing the Inaccessible Genome
Science Translational Medicine
·
03 Apr 2013
·
doi:10.1126/scitranslmed.3006206
2012
Large-scale association analysis identifies new risk loci for coronary artery disease
Nature Genetics
·
02 Dec 2012
·
doi:10.1038/ng.2480
Identification of the
BCAR1-CFDP1-TMEM170A
Locus as a Determinant of Carotid Intima-Media Thickness and Coronary Artery Disease Risk
Circulation: Cardiovascular Genetics
·
01 Dec 2012
·
doi:10.1161/CIRCGENETICS.112.963660
Informed Conditioning on Clinical Covariates Increases Power in Case-Control Association Studies
PLoS Genetics
·
08 Nov 2012
·
doi:10.1371/journal.pgen.1003032
Human genetics offers an emerging picture of common pathways and mechanisms in autoimmunity
Current Opinion in Immunology
·
01 Oct 2012
·
doi:10.1016/j.coi.2012.07.013
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
Nature Genetics
·
12 Aug 2012
·
doi:10.1038/ng.2383
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways
Nature Genetics
·
12 Aug 2012
·
doi:10.1038/ng.2385
The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits
PLoS Genetics
·
02 Aug 2012
·
doi:10.1371/journal.pgen.1002793
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study
The Lancet
·
01 Aug 2012
·
doi:10.1016/S0140-6736(12)60312-2
Impact of Common Variation in Bone-Related Genes on Type 2 Diabetes and Related Traits
Diabetes
·
17 Jul 2012
·
doi:10.2337/db11-1515
Stratifying Type 2 Diabetes Cases by BMI Identifies Genetic Risk Variants in LAMA1 and Enrichment for Risk Variants in Lean Compared to Obese Cases
PLoS Genetics
·
31 May 2012
·
doi:10.1371/journal.pgen.1002741
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance
Nature Genetics
·
13 May 2012
·
doi:10.1038/ng.2274
Analysis of case–control association studies with known risk variants
Bioinformatics
·
03 May 2012
·
doi:10.1093/bioinformatics/bts259
Meta-analysis identifies six new susceptibility loci for atrial fibrillation
Nature Genetics
·
29 Apr 2012
·
doi:10.1038/ng.2261
Evaluation of the Metabochip Genotyping Array in African Americans and Implications for Fine Mapping of GWAS-Identified Loci: The PAGE Study
PLoS ONE
·
23 Apr 2012
·
doi:10.1371/journal.pone.0035651
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Nature
·
04 Apr 2012
·
doi:10.1038/nature11011
Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits: A Multi-Ethnic Meta-Analysis of 45,891 Individuals
PLoS Genetics
·
29 Mar 2012
·
doi:10.1371/journal.pgen.1002607
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
Nature Genetics
·
25 Mar 2012
·
doi:10.1038/ng.2232
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci
The American Journal of Human Genetics
·
01 Mar 2012
·
doi:10.1016/j.ajhg.2011.12.022
Single-Cell Analysis Reveals that Noncoding RNAs Contribute to Clonal Heterogeneity by Modulating Transcription Factor Recruitment
Molecular Cell
·
01 Feb 2012
·
doi:10.1016/j.molcel.2011.11.029
A Genome-Wide Association Search for Type 2 Diabetes Genes in African Americans
PLoS ONE
·
04 Jan 2012
·
doi:10.1371/journal.pone.0029202
2011
Genome-Wide Association Study for Coronary Artery Calcification With Follow-Up in Myocardial Infarction
Circulation
·
01 Dec 2011
·
doi:10.1161/CIRCULATIONAHA.110.974899
Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes
Diabetes
·
16 Sep 2011
·
doi:10.2337/db11-0415
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure
Nature Genetics
·
11 Sep 2011
·
doi:10.1038/ng.922
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
Nature
·
11 Sep 2011
·
doi:10.1038/nature10405
Pervasive Sharing of Genetic Effects in Autoimmune Disease
PLoS Genetics
·
10 Aug 2011
·
doi:10.1371/journal.pgen.1002254
An Increased Burden of Common and Rare Lipid-Associated Risk Alleles Contributes to the Phenotypic Spectrum of Hypertriglyceridemia
Arteriosclerosis, Thrombosis, and Vascular Biology
·
01 Aug 2011
·
doi:10.1161/ATVBAHA.111.226365
A Genome-Wide Association Study Identifies
LIPA
as a Susceptibility Gene for Coronary Artery Disease
Circulation: Cardiovascular Genetics
·
01 Aug 2011
·
doi:10.1161/CIRCGENETICS.110.958728
Influence of 9p21.3 Genetic Variants on Clinical and Angiographic Outcomes in Early-Onset Myocardial Infarction
Journal of the American College of Cardiology
·
01 Jul 2011
·
doi:10.1016/j.jacc.2010.11.075
Genome-Wide Association Analysis Identifies Variants Associated with Nonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits
PLoS Genetics
·
10 Mar 2011
·
doi:10.1371/journal.pgen.1001324
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
Nature Genetics
·
06 Mar 2011
·
doi:10.1038/ng.784
Testing for an Unusual Distribution of Rare Variants
PLoS Genetics
·
03 Mar 2011
·
doi:10.1371/journal.pgen.1001322
Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants
Genetic Epidemiology
·
09 Feb 2011
·
doi:10.1002/gepi.20572
Delineating Signals from Association Studies
Analysis of Complex Disease Association Studies
·
01 Jan 2011
·
doi:10.1016/B978-0-12-375142-3.10017-3
2010
Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies
Journal of the American College of Cardiology
·
01 Nov 2010
·
doi:10.1016/j.jacc.2010.06.022
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
Nature Genetics
·
10 Oct 2010
·
doi:10.1038/ng.685
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
Nature Genetics
·
10 Oct 2010
·
doi:10.1038/ng.686
Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study
Circulation: Cardiovascular Genetics
·
01 Oct 2010
·
doi:10.1161/CIRCGENETICS.109.899443
Hundreds of variants clustered in genomic loci and biological pathways affect human height
Nature
·
29 Sep 2010
·
doi:10.1038/nature09410
Common Variants at 10 Genomic Loci Influence Hemoglobin A1C Levels via Glycemic and Nonglycemic Pathways
Diabetes
·
21 Sep 2010
·
doi:10.2337/db10-0502
Multiethnic Genetic Association Studies Improve Power for Locus Discovery
PLoS ONE
·
08 Sep 2010
·
doi:10.1371/journal.pone.0012600
Biological, clinical and population relevance of 95 loci for blood lipids
Nature
·
01 Aug 2010
·
doi:10.1038/nature09270
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia
Nature Genetics
·
25 Jul 2010
·
doi:10.1038/ng.628
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
Nature Genetics
·
27 Jun 2010
·
doi:10.1038/ng.609
PNPLA3variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease
Hepatology
·
18 May 2010
·
doi:10.1002/hep.23768
Genome-wide meta-analyses identify multiple loci associated with smoking behavior
Nature Genetics
·
25 Apr 2010
·
doi:10.1038/ng.571
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
Nature Genetics
·
17 Jan 2010
·
doi:10.1038/ng.520
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge
Nature Genetics
·
17 Jan 2010
·
doi:10.1038/ng.521
2009
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
Nature Genetics
·
11 Oct 2009
·
doi:10.1038/ng.467
Underlying Genetic Models of Inheritance in Established Type 2 Diabetes Associations
American Journal of Epidemiology
·
14 Jul 2009
·
doi:10.1093/aje/kwp145
Common body mass index-associated variants confer risk of extreme obesity
Human Molecular Genetics
·
24 Jun 2009
·
doi:10.1093/hmg/ddp292
Genome-wide association study identifies eight loci associated with blood pressure
Nature Genetics
·
10 May 2009
·
doi:10.1038/ng.361
Linkage Disequilibrium Mapping of the Replicated Type 2 Diabetes Linkage Signal on Chromosome 1q
Diabetes
·
23 Apr 2009
·
doi:10.2337/db09-0081
The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects
Human Molecular Genetics
·
18 Apr 2009
·
doi:10.1093/hmg/ddp169
New susceptibility locus for coronary artery disease on chromosome 3q22.3
Nature Genetics
·
08 Feb 2009
·
doi:10.1038/ng.307
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
Nature Genetics
·
08 Feb 2009
·
doi:10.1038/ng.327
2008
Variants in MTNR1B influence fasting glucose levels
Nature Genetics
·
07 Dec 2008
·
doi:10.1038/ng.290
Common variants at 30 loci contribute to polygenic dyslipidemia
Nature Genetics
·
07 Dec 2008
·
doi:10.1038/ng.291
Common Missense Variant in the Glucokinase Regulatory Protein Gene Is Associated With Increased Plasma Triglyceride and C-Reactive Protein but Lower Fasting Glucose Concentrations
Diabetes
·
01 Nov 2008
·
doi:10.2337/db08-0516
Practical aspects of imputation-driven meta-analysis of genome-wide association studies
Human Molecular Genetics
·
15 Oct 2008
·
doi:10.1093/hmg/ddn288
Common variants near MC4R are associated with fat mass, weight and risk of obesity
Nature Genetics
·
04 May 2008
·
doi:10.1038/ng.140
Identification of ten loci associated with height highlights new biological pathways in human growth
Nature Genetics
·
06 Apr 2008
·
doi:10.1038/ng.125
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
Nature Genetics
·
30 Mar 2008
·
doi:10.1038/ng.120
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
Nature Genetics
·
13 Jan 2008
·
doi:10.1038/ng.75
2007
A common variant of HMGA2 is associated with adult and childhood height in the general population
Nature Genetics
·
02 Sep 2007
·
doi:10.1038/ng2121
Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels
Science
·
01 Jun 2007
·
doi:10.1126/science.1142358
2006
Convergent adaptation of human lactase persistence in Africa and Europe
Nature Genetics
·
10 Dec 2006
·
doi:10.1038/ng1946
Coverage and Characteristics of the Affymetrix GeneChip Human Mapping 100K SNP Set
PLoS Genetics
·
05 May 2006
·
doi:10.1371/journal.pgen.0020067
A Map of Recent Positive Selection in the Human Genome
PLoS Biology
·
07 Mar 2006
·
doi:10.1371/journal.pbio.0040072
2005
Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes
Proceedings of the National Academy of Sciences
·
13 Dec 2005
·
doi:10.1073/pnas.0507325102
Confounding from Cryptic Relatedness in Case-Control Association Studies
PLoS Genetics
·
02 Sep 2005
·
doi:10.1371/journal.pgen.0010032