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List of works by David Altshuler

2011 Curt Stern Award Address 1 ⬇️

scientific article published on March 9, 2012

5' flanking variants of resistin are associated with obesity

scientific article published in May 2002

A High-Density Admixture Map for Disease Gene Discovery in African Americans

scientific article

A Large Study of Androgen Receptor Germline Variants and Their Relation to Sex Hormone Levels and Prostate Cancer Risk. Results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium.

scientific article published in July 2010

A Loss-Of-Function Splice Acceptor Variant in IGF2 is Protective for Type 2 Diabetes

scientific article

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017

A candidate gene approach to searching for low-penetrance breast and prostate cancer genes

article

A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus

scientific article (publication date: May 2006)

A comprehensive analysis of common genetic variation in prolactin (PRL) and PRL receptor (PRLR) genes in relation to plasma prolactin levels and breast cancer risk: the multiethnic cohort

scientific article

A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort

scientific article

A framework for variation discovery and genotyping using next-generation DNA sequencing data

scientific article (publication date: May 2011)

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease

scientific article

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

scientific article

A large study of androgen receptor germline variants and their relation to sex hormone levels and prostate cancer risk. Results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium

scientific article

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

scientific article

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

scientific article (publication date: 15 February 2001)

A map of human genome variation from population-scale sequencing ⬇️

scientific article published on October 28, 2010

A novel polymorphism of the human CD40 receptor with enhanced function

scientific article published on 30 June 2008

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity

scientific article published on 16 October 2014

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

scientific article

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

A second generation human haplotype map of over 3.1 million SNPs

scientific article

A systematic assessment of common genetic variation in CYP11A and risk of breast cancer

scientific article published in December 2006

Abstract 2378: Harmonization of next generation sequencing data within consortia for gene discovery in familial breast cancer

article

Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer

article published in 2014

Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function

scientific article

Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men.

scholarly article

African ancestry and its correlation to type 2 diabetes in African Americans: a genetic admixture analysis in three U.S. population cohorts

scientific article

Age-related clonal hematopoiesis associated with adverse outcomes

scientific article

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

scientific article published on 31 May 2017

An SNP map of the human genome generated by reduced representation shotgun sequencing

scientific article

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published on 28 November 2012

Analysis of case-control association studies with known risk variants

scientific article

Analysis of protein-coding genetic variation in 60,706 humans

scientific article (publication date: 17 August 2016)

Assessing the impact of population stratification on genetic association studies

scientific article

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

scientific article

Association between microdeletion and microduplication at 16p11.2 and autism

scientific article

Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study

scientific article published on 15 July 2016

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population

scientific article published on June 2014

Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes

scientific article published on 01 August 2005

Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes

scientific article published on 01 December 2004

Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes

article

Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people

scientific article published in June 2005

Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people

scientific article published on 01 March 2005

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

scientific article

Branched chain and aromatic amino acids change acutely following two medical therapies for type 2 diabetes mellitus

scientific article published on 15 August 2013

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts

scientific article

CYP17 genetic variation and risk of breast and prostate cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3).

scientific article published in November 2007

Calibrating a coalescent simulation of human genome sequence variation

scientific article published on November 2005

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

article

Challenges and standards in integrating surveys of structural variation

scientific article published on July 2007

Characterization of single-nucleotide polymorphisms in coding regions of human genes

scientific article (publication date: July 1999)

Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study

scientific article

Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis

scientific article published in January 2005

Clinical risk factors, DNA variants, and the development of type 2 diabetes

scientific article

Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13

scientific article

Common Variants in the ENPP1 Gene Are Not Reproducibly Associated With Diabetes or Obesity

article

Common deletion polymorphisms in the human genome.

scientific article

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

Common genetic variation in IGF1 and prostate cancer risk in the Multiethnic Cohort.

scientific article published in January 2006

Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits

scientific article

Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations

scientific article

Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals

scientific article published on 01 October 2006

Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion

scientific article

Common variants associated with plasma triglycerides and risk for coronary artery disease

scientific article

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

scientific article

Common variants at 30 loci contribute to polygenic dyslipidemia

scientific article

Common variants at CD40 and other loci confer risk of rheumatoid arthritis

scientific article published on 14 September 2008

Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program

scientific article published on 3 August 2010

Common variants in HNF-1 alpha and risk of type 2 diabetes

scientific article published on 11 October 2006

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

scientific article

Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction

scientific article

Comparison of fine-scale recombination rates in humans and chimpanzees

scientific article published on 10 February 2005

Completing the map of human genetic variation

scientific article published on May 2007

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

scientific article

Consistent association of type 2 diabetes risk variants found in europeans in diverse racial and ethnic groups

scientific article

Copy number variation: new insights in genome diversity

scientific article

Copy-number variation and association studies of human disease

scientific article

Correction: African Ancestry and Its Correlation to Type 2 Diabetes in African Americans: A Genetic Admixture Analysis in Three U.S. Population Cohorts.

scientific article published on 20 September 2012

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics

Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids

scientific article

DASH: a method for identical-by-descent haplotype mapping uncovers association with recent variation

scientific article

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

scientific article published on 13 July 2009

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

scientific article

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

scientific article published on September 2008

Demonstrating stratification in a European American population

Detecting recent positive selection in the human genome from haplotype structure

scientific article

Detection of regulatory variation in mouse genes

scientific article published on 15 October 2002

Distribution and medical impact of loss-of-function variants in the Finnish founder population

scientific article

Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease

scientific article

Effects of the type 2 diabetes-associated PPARG P12A polymorphism on progression to diabetes and response to troglitazone

scientific article

Efficiency and power as a function of sequence coverage, SNP array density, and imputation

scientific article

Efficiency and power in genetic association studies

scientific article

Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle

scientific article

Erratum: Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published in Nature

Erratum: Corrigendum: Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

scholarly article published in Nature Genetics

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 23 January 2018

Estimation of the multiple testing burden for genomewide association studies of nearly all common variants

scientific article (publication date: May 2008)

European admixture on the Micronesian island of Kosrae: lessons from complete genetic information

scientific article

Evaluating and improving power in whole-genome association studies using fixed marker sets

scientific article published on 21 May 2006

Evaluating empirical bounds on complex disease genetic architecture

scientific article

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

scientific article

Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes

article

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

scientific article (publication date: 6 July 2012)

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

scientific article published on 26 September 2013

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

scientific article

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

article by Jason Flannick et al published 22 May 2019 in Nature

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

scientific article

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

scientific article published on 19 November 2012

Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program

scientific article published on 10 June 2008

F.20. Delineating SLE Susceptibility Polymorphisms at the OX40L Locus

From Darwin's finches to canaries in the coal mine--mining the genome for new biology

scientific article

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

scientific article

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population

scientific article

Genetic Modulation of Lipid Profiles following Lifestyle Modification or Metformin Treatment: The Diabetes Prevention Program ⬇️

scientific article published on August 30, 2012

Genetic Polymorphisms and Disease ⬇️

scientific article published on May 28, 1998

Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines

scientific article

Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts

scientific article

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

scientific article published on 13 June 2018

Genetic mapping in human disease

scientific article (publication date: 7 November 2008)

Genetic modifiers of EGFR dependence in non-small cell lung cancer

scientific article

Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk

scientific article

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

scientific article published on 6 October 2011

Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus

scientific journal article

Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women

scientific article

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

scientific journal article

Genetic variation in the HSD17B1 gene and risk of prostate cancer

scientific article

Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant

article

Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification

scientific article

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

scientific article (publication date: June 2007)

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

scientific article

Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae

scientific article

Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction

scientific article

Genome-wide association study identifies eight loci associated with blood pressure

scientific article (publication date: June 2009)

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

scientific article

Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae

scientific article published on 15 February 2009

Genome-wide detection and characterization of positive selection in human populations

scientific article

Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

scientific article published on 22 January 2015

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

scientific article

Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height

scientific article

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

scientific article

Guilt by association

scientific article published on 01 October 2000

Haplotype analysis of the HSD17B1 gene and risk of breast cancer: a comprehensive approach to multicenter analyses of prospective cohort studies

scientific article published in February 2006

Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region

scientific article published in May 2004

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes

scientific article published in March 2006

Haplotypes of the estrogen receptor beta gene and breast cancer risk

scientific article published on January 2008

High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people

scientific article published in January 2006

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

scientific article

Human genome sequence variation and the influence of gene history, mutation and recombination

scientific article

Human genome sequence variation and the search for genes influencing stroke

scientific article published on 18 September 2003

Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction

scientific article

IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation of Ucp1 mRNA and Other mRNAs encoding mitochondrial proteins

scientific article

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

scientific article

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions

scientific article

Igf-I genetic variation and breast cancer: the multiethnic cohort

scientific article

Inactivating mutations in NPC1L1 and protection from coronary heart disease

scientific article

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants

scientific article published on 30 December 2013

Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population

scientific article

Influence of 9p21.3 Genetic Variants on Clinical and Angiographic Outcomes in Early-Onset Myocardial Infarction

Informed conditioning on clinical covariates increases power in case-control association studies

scientific article published on 8 November 2012

Integrated detection and population-genetic analysis of SNPs and copy number variation

scientific article (publication date: October 2008)

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

scientific article published on 07 September 2008

Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci.

scientific article

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

scientific article

Large-scale association analysis identifies new risk loci for coronary artery disease

scientific article published on 02 December 2012

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

scientific article

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

scientific article published on 18 June 2014

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

scientific article

MEF2A sequence variants and coronary artery disease: a change of heart?

scientific article published on April 2005

Mapping and sequencing of structural variation from eight human genomes

scientific article

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

scientific article

Methods for high-density admixture mapping of disease genes

scientific article

Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals

scientific article

Multiple regions within 8q24 independently affect risk for prostate cancer

scientific article published on April 2007

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article

New susceptibility locus for coronary artery disease on chromosome 3q22.3.

scientific article published on 08 February 2009

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

Once and Again—Issues Surrounding Replication in Genetic Association Studies

PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

scientific article (publication date: July 2003)

Pathways targeted by antidiabetes drugs are enriched for multiple genes associated with type 2 diabetes risk

scientific article

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

scientific article (publication date: 11 August 2012)

Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus

scientific article published on 02 December 2007

Polymorphisms associated with cholesterol and risk of cardiovascular events

scientific article

Positive natural selection in the human lineage

scientific article (publication date: 16 June 2006)

Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants

Prospective functional classification of all possible missense variants in PPARG.

scientific article published on 17 October 2016

Prospective study of the association between the proline to alanine codon 12 polymorphism in the PPARgamma gene and type 2 diabetes

scientific article published in October 2003

Quality and completeness of SNP databases

scientific article

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

scientific article published on January 2013

Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project

scientific article published on 13 January 2016

Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

scientific article

Replicating genotype-phenotype associations

scientific article (publication date: 7 June 2007)

Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4

scientific article

Risk and return for the clinician-investigator

scientific article published on May 2012

Role for Msh5 in the regulation of Ig class switch recombination

scientific article

Searching for signals of evolutionary selection in 168 genes related to immune function

scientific article published on 14 December 2005

Sequence Variants of Estrogen Receptor and Risk of Prostate Cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 19 December 2017

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

scientific article

Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland

scientific article

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

scientific article

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

scientific article

Strong association of the APOA5-1131T>C gene variant and early-onset acute myocardial infarction

scientific article

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity

scientific article

Systematic evaluation of genetic variation at the androgen receptor locus and risk of prostate cancer in a multiethnic cohort study

scientific article

Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae

scientific article (publication date: 18 August 2009)

TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program

scientific article published on July 2006

TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study

scientific article

TXNIP regulates peripheral glucose metabolism in humans

scientific article

Testing for an unusual distribution of rare variants

scientific article

Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program

scientific article published on 4 December 2007

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

scientific article (publication date: September 2010)

The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people

scientific article

The Lin28/let-7 axis regulates glucose metabolism

scientific article

The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects

scientific article published on 18 April 2009

The case for selection at CCR5-Delta32

scientific article published in November 2005

The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

scientific article

The functional spectrum of low-frequency coding variation ⬇️

scientific article published on September 14, 2011

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits

scientific article published on January 2003

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

scientific article

The multiethnic cohort study: exploring genes, lifestyle and cancer risk

scientific article published in July 2004

The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease

scientific article published on 23 April 2015

The structure of haplotype blocks in the human genome

scientific article

Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus

scholarly article

Tissue-specific alternative splicing of TCF7L2.

scientific article published on 14 July 2009

Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

scientific article published on 23 February 2016

Transferability of tag SNPs in genetic association studies in multiple populations

scientific article published on 22 October 2006

Triglyceride response to an intensive lifestyle intervention is enhanced in carriers of the GCKR Pro446Leu polymorphism

scientific article

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scientific article

Two independent alleles at 6q23 associated with risk of rheumatoid arthritis

scientific article

Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program

scientific article

Underlying genetic models of inheritance in established type 2 diabetes associations

scientific article published on 14 July 2009

Updated genetic score based on 34 confirmed type 2 diabetes Loci is associated with diabetes incidence and regression to normoglycemia in the diabetes prevention program

scientific article

Validating therapeutic targets through human genetics

scientific article published on 19 July 2013

Variants in MTNR1B influence fasting glucose levels

scientific article

Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention

scientific article published on 27 April 2017

Whole population, genome-wide mapping of hidden relatedness

scientific article

Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.

scientific article

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

scientific article

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