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Lista de obras de David Altshuler

2011 Curt Stern Award Address 1 ⬇️

artículo científico publicado el 9 de marzo de 2012

5' flanking variants of resistin are associated with obesity

artículo científico publicado en 2002

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

artículo científico publicado en 2004

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2003

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2001

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

artículo científico publicado el 28 de octubre de 2010

A novel polymorphism of the human CD40 receptor with enhanced function

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

A second generation human haplotype map of over 3.1 million SNPs

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

Age-related clonal hematopoiesis associated with adverse outcomes

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2000

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

artículo científico publicado en 2012

Analysis of case-control association studies with known risk variants

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Assessing the impact of population stratification on genetic association studies

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2005

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

Calibrating a coalescent simulation of human genome sequence variation

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

article

Common deletion polymorphisms in the human genome

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Common variants at 30 loci contribute to polygenic dyslipidemia

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

Comparison of fine-scale recombination rates in humans and chimpanzees

artículo científico publicado en 2005

Completing the map of human genetic variation

artículo científico publicado en 2007

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

artículo científico publicado en 2006

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

artículo científico publicado en 2010

Copy number variation: new insights in genome diversity

artículo científico publicado en 2006

Copy-number variation and association studies of human disease

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

Demonstrating stratification in a European American population

Detecting recent positive selection in the human genome from haplotype structure

artículo científico publicado en 2002

Detection of regulatory variation in mouse genes

artículo científico publicado en 2002

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

Efficiency and power in genetic association studies

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

Evaluating empirical bounds on complex disease genetic architecture

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado el 30 de agosto de 2012

Genetic Polymorphisms and Disease ⬇️

artículo científico publicado el 28 de mayo de 1998

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Genetic mapping in human disease

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2001

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 2004

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

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

artículo científico publicado en 2006

Haplotypes of the estrogen receptor beta gene and breast cancer risk

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2002

Human genome sequence variation and the search for genes influencing stroke

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

Inactivating mutations in NPC1L1 and protection from coronary heart disease

artículo científico publicado en 2014

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

Mapping and sequencing of structural variation from eight human genomes

artículo científico publicado en 2008

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

artículo científico publicado en 2008

Methods for high-density admixture mapping of disease genes

artículo científico publicado en 2004

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

artículo científico publicado en 2003

Multiple regions within 8q24 independently affect risk for prostate cancer

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2012

Once and Again—Issues Surrounding Replication in Genetic Association Studies

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

artículo científico publicado en 2003

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

Polymorphisms associated with cholesterol and risk of cardiovascular events

artículo científico publicado en 2008

Positive natural selection in the human lineage

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2003

Quality and completeness of SNP databases

artículo científico publicado en 2003

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Replicating genotype-phenotype associations

artículo científico publicado en 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

artículo científico publicado en 2005

Risk and return for the clinician-investigator

artículo científico publicado en 2012

Role for Msh5 in the regulation of Ig class switch recombination

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program

artículo científico publicado en 2006

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

artículo científico publicado en 2007

TXNIP regulates peripheral glucose metabolism in humans

artículo científico publicado en 2007

Testing for an unusual distribution of rare variants

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2006

The Lin28/let-7 axis regulates glucose metabolism

artículo científico publicado en 2011

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

artículo científico publicado en 2009

The case for selection at CCR5-Delta32

artículo científico publicado en 2005

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

artículo científico publicado en 2000

The functional spectrum of low-frequency coding variation ⬇️

artículo científico publicado el 14 de septiembre de 2011

The genetic architecture of type 2 diabetes

artículo científico publicado en 2016

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

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2015

The structure of haplotype blocks in the human genome

artículo científico publicado en 2002

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

artículo científico publicado en 2007

Tissue-specific alternative splicing of TCF7L2.

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

Underlying genetic models of inheritance in established type 2 diabetes associations

artículo científico publicado en 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

artículo científico publicado en 2011

Validating therapeutic targets through human genetics

artículo científico

Variants in MTNR1B influence fasting glucose levels

artículo científico publicado en 2008

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

artículo científico publicado en 2017

Whole population, genome-wide mapping of hidden relatedness

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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