David Altshuler | Academic Influence

David Altshuler 's AcademicInfluence.com Rankings

David Altshuler

Philosophy

#4452

World Rank

#6966

Historical Rank

#1294

USA Rank

Logic

#1900

World Rank

#2768

Historical Rank

#507

USA Rank

philosophy Degrees

Download Badge

Philosophy

David Altshuler 's Degrees

Doctorate Medicine Harvard University

Why Is David Altshuler Influential?

(Suggest an Edit or Addition)

According to Wikipedia, David Matthew Altshuler is a clinical endocrinologist and human geneticist. He is Executive Vice President, Global Research and Chief Scientific Officer at Vertex Pharmaceuticals. Prior to joining Vertex in 2014, he was at the Broad Institute of Harvard and MIT, and was a Professor of Genetics and Medicine at Harvard Medical School, and in the Department of Biology at Massachusetts Institute of Technology. He was also a faculty member in the Department of Molecular Biology, Center for Human Genetic Research, and the Diabetes Unit, all at Massachusetts General Hospital. He was one of four Founding Core Members of the Broad Institute, and served as the Institute's Deputy Director, Chief Academic Officer, and Director of the Program in Medical and Population Genetics.

(See a Problem?)

David Altshuler 's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. (2010) (19260)
A global reference for human genetic variation (2015) (11857)
A framework for variation discovery and genotyping using next-generation DNA sequencing data (2011) (9523)
An integrated map of genetic variation from 1,092 human genomes (2012) (7565)
PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes (2003) (6859)
A map of human genome variation from population-scale sequencing (2010) (6496)
The Structure of Haplotype Blocks in the Human Genome (2002) (5687)
From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline (2013) (4884)
A second generation human haplotype map of over 3.1 million SNPs (2007) (4567)
Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids (2010) (3485)
Age-related clonal hematopoiesis associated with adverse outcomes. (2014) (2967)
Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels (2007) (2888)
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms (2001) (2879)
Integrating common and rare genetic variation in diverse human populations (2010) (2731)
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (2010) (2087)
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study (2012) (2002)
Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk (2011) (1928)
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes (2008) (1882)
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes (2012) (1839)
Detecting recent positive selection in the human genome from haplotype structure (2002) (1838)
Efficiency and power in genetic association studies (2005) (1834)
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2010) (1801)
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation (2009) (1735)
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes (2012) (1604)
Large-scale association analysis identifies new risk loci for coronary artery disease (2012) (1507)
Genetic Mapping in Human Disease (2008) (1425)
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans (2008) (1392)
Common variants at 30 loci contribute to polygenic dyslipidemia (2009) (1380)
Replicating genotype–phenotype associations (2007) (1367)
Association between microdeletion and microduplication at 16p11.2 and autism. (2008) (1338)
Genome-wide association study identifies eight loci associated with blood pressure (2009) (1225)
Mapping and sequencing of structural variation from eight human genomes (2008) (1195)
The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes (2000) (1150)
Genome-wide meta-analyses identify multiple loci associated with smoking behavior (2010) (1107)
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants (2009) (1100)
Positive Natural Selection in the Human Lineage (2006) (1070)
Integrated detection and population-genetic analysis of SNPs and copy number variation (2008) (980)
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility (2014) (933)
The genetic architecture of type 2 diabetes (2016) (927)
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease (2011) (894)
Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants (2012) (849)
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs (2008) (838)
Copy number variation: new insights in genome diversity. (2006) (832)
Guilt by association (2000) (808)
Assessing the impact of population stratification on genetic association studies (2004) (806)
The Lin28/let-7 Axis Regulates Glucose Metabolism (2011) (802)
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. (2014) (799)
TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. (2006) (796)
Common variants associated with plasma triglycerides and risk for coronary artery disease (2013) (767)
The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. (2000) (763)
Estimation of the multiple testing burden for genomewide association studies of nearly all common variants (2008) (758)
Common deletion polymorphisms in the human genome (2006) (754)
An SNP map of the human genome generated by reduced representation shotgun sequencing (2000) (749)
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease (2011) (747)
Variants in MTNR1B influence fasting glucose levels (2009) (742)
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. (2007) (711)
Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion (2009) (698)
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus (2006) (680)
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease (2008) (674)
Calibrating a coalescent simulation of human genome sequence variation. (2005) (668)
Multiple regions within 8q24 independently affect risk for prostate cancer (2007) (668)
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. (2010) (630)
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration (2006) (626)
Copy-number variation and association studies of human disease (2007) (626)
Errα and Gabpa/b specify PGC-1α-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle (2004) (614)
Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men (2006) (609)
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. (2005) (603)
Testing for an Unusual Distribution of Rare Variants (2011) (595)
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus (2008) (592)
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis (2007) (592)
Characterization of single-nucleotide polymorphisms in coding regions of human genes (1999) (581)
Polymorphisms associated with cholesterol and risk of cardiovascular events. (2008) (561)
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium (2009) (551)
Common variants at CD40 and other loci confer risk of rheumatoid arthritis (2008) (550)
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans (2017) (547)
Validating therapeutic targets through human genetics (2013) (522)
New susceptibility locus for coronary artery disease on chromosome 3q22.3 (2009) (510)
The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits (2012) (506)
Clinical risk factors, DNA variants, and the development of type 2 diabetes. (2008) (503)
Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits (2010) (486)
Methods for high-density admixture mapping of disease genes. (2004) (477)
Demonstrating stratification in a European American population (2005) (476)
Characterization of single-nucleotide polymorphisms in coding regions of human genes (1999) (467)
The role of PPAR-γ in macrophage differentiation and cholesterol uptake (2001) (465)
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus (2007) (454)
Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions (2009) (453)
Choosing Haplotype-Tagging SNPS Based on Unphased Genotype Data Using a Preliminary Sample of Unrelated Subjects with an Example from the Multiethnic Cohort Study (2003) (450)
A high-density admixture map for disease gene discovery in african americans. (2004) (450)
CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia. (2020) (449)
TXNIP Regulates Peripheral Glucose Metabolism in Humans (2007) (431)
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction (2014) (426)
Whole population, genome-wide mapping of hidden relatedness. (2009) (426)
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure (2011) (424)
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico (2013) (419)
Detection of regulatory variation in mouse genes (2002) (409)
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes (2014) (405)
De Novo Copy Number Variants Identify New Genes and Loci in Isolated, Sporadic Tetralogy of Fallot (2009) (403)
Common Single Nucleotide Polymorphisms in TCF7L2 Are Reproducibly Associated With Type 2 Diabetes and Reduce the Insulin Response to Glucose in Nondiabetic Individuals (2006) (395)
Challenges and standards in integrating surveys of structural variation (2007) (390)
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function (2016) (388)
Comparison of Fine-Scale Recombination Rates in Humans and Chimpanzees (2005) (375)
Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle. (2004) (368)
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency (2010) (366)
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 (2010) (357)
Genetic fine-mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci (2015) (349)
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population (2014) (348)
The multiethnic cohort study: exploring genes, lifestyle and cancer risk (2004) (345)
Genetic variants at CD28, PRDM1, and CD2/CD58 are associated with rheumatoid arthritis risk (2009) (343)
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease (2015) (341)
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. (2006) (340)
The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. (2003) (336)
Human genome sequence variation and the influence of gene history, mutation and recombination (2002) (325)
Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. (2004) (322)
Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification. (2004) (318)
Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids. (2004) (310)
Evaluating and improving power in whole-genome association studies using fixed marker sets (2006) (298)
Inactivating mutations in NPC1L1 and protection from coronary heart disease. (2014) (289)
Genome-Wide Association Study for Coronary Artery Calcification With Follow-Up in Myocardial Infarction (2011) (286)
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. (2012) (282)
Common Missense Variant in the Glucokinase Regulatory Protein Gene Is Associated With Increased Plasma Triglyceride and C-Reactive Protein but Lower Fasting Glucose Concentrations (2008) (272)
Androgen Metabolism and Prostate Cancer: Establishing a Model of Genetic Susceptibility (1998) (265)
Modeling and E-M Estimation of Haplotype-Specific Relative Risks from Genotype Data for a Case-Control Study of Unrelated Individuals (2003) (257)
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia (2013) (253)
Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders (2013) (248)
Common Variants in 40 Genes Assessed for Diabetes Incidence and Response to Metformin and Lifestyle Intervention in the Diabetes Prevention Program (2010) (244)
Transferability of tag SNPs in genetic association studies in multiple populations (2006) (231)
Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease (2011) (228)
Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus (2008) (219)
Taurine promotes the differentiation of a vertebrate retinal cell type in vitro. (1993) (218)
The role of PPAR-gamma in macrophage differentiation and cholesterol uptake. (2001) (217)
Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes (2007) (217)
Genetic Analysis of Human Traits In Vitro: Drug Response and Gene Expression in Lymphoblastoid Cell Lines (2008) (215)
The functional spectrum of low-frequency coding variation (2011) (210)
Quality and completeness of SNP databases (2003) (210)
The Case for Selection at CCR5-Δ32 (2005) (199)
Completing the map of human genetic variation (2007) (199)
Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci (2015) (199)
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. (2014) (197)
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. (2014) (197)
Consistent Association of Type 2 Diabetes Risk Variants Found in Europeans in Diverse Racial and Ethnic Groups (2010) (196)
Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. (2001) (191)
Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. (2006) (191)
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study (2011) (185)
A temporally regulated, diffusible activity is required for rod photoreceptor development in vitro. (1992) (180)
A federated ecosystem for sharing genomic, clinical data (2016) (177)
Once and again-issues surrounding replication in genetic association studies. (2002) (173)
5' flanking variants of resistin are associated with obesity. (2002) (173)
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 (2011) (173)
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. (2008) (170)
Prospective functional classification of all possible missense variants in PPARG (2016) (167)
Guilt beyond a reasonable doubt (2007) (167)
A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort. (2003) (158)
Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women. (2007) (155)
Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer (2010) (154)
Accurately Assessing the Risk of Schizophrenia Conferred by Rare Copy-Number Variation Affecting Genes with Brain Function (2010) (154)
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (153)
Role for Msh5 in the regulation of Ig class switch recombination (2007) (151)
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes (2014) (150)
Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants (2014) (149)
Multiple rare alleles at LDLR and APOA5 confer risk for early-onset myocardial infarction (2014) (147)
Evaluating empirical bounds on complex disease genetic architecture (2013) (145)
A Genome-Wide Association Study Identifies LIPA as a Susceptibility Gene for Coronary Artery Disease (2011) (141)
Common SNPs in HMGCR in Micronesians and Whites Associated With LDL-Cholesterol Levels Affect Alternative Splicing of Exon13 (2008) (140)
A candidate gene approach to searching for low-penetrance breast and prostate cancer genes (2005) (140)
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (2008) (138)
Effects of the type 2 diabetes-associated PPARG P12A polymorphism on progression to diabetes and response to troglitazone. (2007) (133)
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes (2012) (129)
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes (2013) (128)
High-Density Lipoprotein-Mimicking Nanodiscs for Chemo-immunotherapy against Glioblastoma Multiforme. (2019) (128)
Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants (2011) (128)
The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease (2015) (127)
Exome Aggregation Consortium (2016) (125)
Common genetic variation in IGF1 and prostate cancer risk in the Multiethnic Cohort. (2006) (125)
Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk (2013) (120)
Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms (2014) (120)
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. (2012) (120)
Type 2 Diabetes–Associated Missense Polymorphisms KCNJ11 E23K and ABCC8 A1369S Influence Progression to Diabetes and Response to Interventions in the Diabetes Prevention Program (2007) (120)
Positive Natural Selection in the Human (2006) (118)
Structural forms of the human amylase locus and their relationships to SNPs, haplotypes, and obesity (2015) (118)
Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae (2009) (117)
IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation of Ucp1 mRNA and Other mRNAs encoding mitochondrial proteins. (2015) (115)
Genetic polymorphisms and disease. (1998) (113)
Tissue-specific alternative splicing of TCF7L2 (2009) (110)
Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms (2017) (110)
Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms (2017) (110)
Extension of Type 2 Diabetes Genome-Wide Association Scan Results in the Diabetes Prevention Program (2008) (106)
Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction (2011) (101)
Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia (2013) (98)
Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus (2015) (98)
From Darwin's finches to canaries in the coal mine--mining the genome for new biology. (2008) (94)
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes (2018) (91)
A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant (1999) (90)
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. (2010) (89)
Eight blood pressure loci identified by genome-wide association study of 34,433 people of European ancestry (2009) (88)
Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease (2009) (86)
Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (2013) (86)
Systematic evaluation of genetic variation at the androgen receptor locus and risk of prostate cancer in a multiethnic cohort study. (2005) (84)
Searching for signals of evolutionary selection in 168 genes related to immune function (2006) (83)
Common Variants in the ENPP1 Gene Are Not Reproducibly Associated With Diabetes or Obesity (2006) (83)
Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes. (2004) (83)
Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. (2005) (82)
Mutant ATRX: uncovering a new therapeutic target for glioma (2018) (81)
Informed Conditioning on Clinical Covariates Increases Power in Case-Control Association Studies (2012) (81)
analyzing next-generation DNA sequencing data The Genome Analysis Toolkit : A MapReduce framework for Material Supplemental (2010) (80)
Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae. (2009) (79)
High-throughput luminescent reporter of insulin secretion for discovering regulators of pancreatic Beta-cell function. (2015) (78)
Influence of 9p21.3 genetic variants on clinical and angiographic outcomes in early-onset myocardial infarction. (2011) (78)
Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease (2017) (78)
Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes. (2005) (78)
Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project. (2016) (77)
African Ancestry and Its Correlation to Type 2 Diabetes in African Americans: A Genetic Admixture Analysis in Three U.S. Population Cohorts (2012) (76)
Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia (2006) (74)
Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program (2008) (73)
Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts (2007) (73)
DASH: a method for identical-by-descent haplotype mapping uncovers association with recent variation. (2011) (72)
The Pro12Ala variant at the peroxisome proliferator-activated receptor γ gene and change in obesity-related traits in the Diabetes Prevention Program (2007) (72)
CYP17 Genetic Variation and Risk of Breast and Prostate Cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3) (2007) (71)
Genetic Variation in the HSD17B1 Gene and Risk of Prostate Cancer (2005) (69)
Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis. (2005) (66)
Haplotype analysis of the HSD17B1 gene and risk of breast cancer: a comprehensive approach to multicenter analyses of prospective cohort studies. (2006) (66)
Prospective study of the association between the proline to alanine codon 12 polymorphism in the PPARgamma gene and type 2 diabetes. (2003) (65)
Underlying genetic models of inheritance in established type 2 diabetes associations. (2009) (62)
Common variants in HNF-1 α and risk of type 2 diabetes (2006) (62)
A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk. (2005) (60)
Branched chain and aromatic amino acids change acutely following two medical therapies for type 2 diabetes mellitus. (2013) (59)
Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort. (2004) (59)
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (2020) (58)
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. (2010) (57)
Common variants at CD 40 and other loci confer risk of rheumatoid arthritis (2008) (56)
Current state and future prospects of immunotherapy for glioma. (2018) (56)
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 (2007) (53)
Strong association of the APOA5-1131T>C gene variant and early-onset acute myocardial infarction. (2011) (50)
Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people. (2005) (50)
MEF2A sequence variants and coronary artery disease: a change of heart? (2005) (49)
Genetic modifiers of EGFR dependence in non-small cell lung cancer (2014) (48)
Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population (2016) (48)
Biases and reconciliation in estimates of linkage disequilibrium in the human genome. (2006) (46)
Erratum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (Nature (2013) 493 (216-220) DOI: 10.1038/nature116) (2013) (44)
Key determinants of short-term and long-term glioblastoma survival: A 14-year retrospective study of patients from the Hermelin Brain Tumor Center at Henry Ford Hospital (2014) (44)
Analysis of case-control association studies with known risk variants (2012) (43)
A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes (2017) (43)
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk (2017) (43)
Haplotypes of the estrogen receptor beta gene and breast cancer risk (2008) (43)
Triglyceride response to an intensive lifestyle intervention is enhanced in carriers of the GCKR Pro446Leu polymorphism. (2011) (41)
Transferability of Tag SNPs to Capture Common Genetic Variation in DNA Repair Genes Across Multiple Populations (2005) (38)
High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people. (2006) (37)
Common variants in HNF-1 alpha and risk of type 2 diabetes. (2006) (37)
Harvesting Medical Information from the Human Family Tree (2005) (37)
Human Genome Sequence Variation and the Search for Genes Influencing Stroke (2003) (36)
Sequence Variants of Estrogen Receptor β and Risk of Prostate Cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (2007) (35)
Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population. (2011) (34)
The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects. (2009) (34)
Genetic Modulation of Lipid Profiles following Lifestyle Modification or Metformin Treatment: The Diabetes Prevention Program (2012) (33)
Health Related Quality of Life in Adult Low and High-Grade Glioma Patients Using the National Institutes of Health Patient Reported Outcomes Measurement Information System (PROMIS) and Neuro-QOL Assessments (2019) (33)
Genetic Modulation of Lipid Profiles following Lifestyle Modification or Metformin Treatment: The Diabetes Prevention Program (2012) (33)
A role for coding functional variants in HNF4A in type 2 diabetes susceptibility (2010) (32)
A Y chromosomal influence on prostate cancer risk: the multi-ethnic cohort study (2003) (31)
A novel polymorphism of the human CD40 receptor with enhanced function. (2008) (31)
Replicating genotype – phenotype associations What constitutes replication of a genotype – phenotype association , and how best can it be achieved ? (2007) (29)
Pathways Targeted by Antidiabetes Drugs Are Enriched for Multiple Genes Associated With Type 2 Diabetes Risk (2014) (28)
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. (2014) (27)
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees (2017) (27)
Efficiency and Power as a Function of Sequence Coverage, SNP Array Density, and Imputation (2012) (25)
Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland. (2014) (25)
Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae (2009) (25)
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2017) (25)
Peritransplant absolute lymphocyte count as a predictive factor for advanced recurrence of hepatitis C after liver transplantation (2014) (24)
A systematic assessment of common genetic variation in CYP11A and risk of breast cancer. (2006) (24)
Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms (2016) (23)
Narrow-sense heritability estimation of complex traits using identity-by-descent information (2017) (22)
Haplotype structures and large-scale association testing of the 5 ' AMP-activated protein kinase genes PRK4A2, PRKAB1, and PRK4B1 with type 2 diabetes (2006) (22)
IGF-I Genetic Variation and Breast Cancer: the Multiethnic Cohort (2006) (21)
Hypothesis-Based Analysis of Gene-Gene Interactions and Risk of Myocardial Infarction (2012) (21)
Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Nature Genetics (2010) 42 (105-116)) (2010) (20)
First-in-human phase I trial of the combination of two adenoviral vectors expressing HSV1-TK and FLT3L for the treatment of newly diagnosed resectable malignant glioma: Initial results from the therapeutic reprogramming of the brain immune system. (2019) (19)
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers (2011) (19)
Paternal inheritance of a female moth ’ s mating preference (19)
Clinical skills development in student-run free clinic volunteers: a multi-trait, multi-measure study (2014) (19)
Tissue-specific alternative splicing of TCF 7 L 2 (2009) (17)
Control of photoreceptor development (1992) (17)
The Krüppel-Like Factor 11 (KLF11) Q62R Polymorphism Is Not Associated With Type 2 Diabetes in 8,676 People (2006) (17)
Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer (2010) (17)
BDNF, COMT, and DRD2 polymorphisms and ability to return to work in adult patients with low- and high-grade glioma. (2019) (16)
Identification and Functional Characterization of G 6 PC 2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G 6 PC 2-ABCB 11 Locus (2015) (16)
Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans. (2014) (16)
Differences in vascular endothelial growth factor receptor expression and correlation with the degree of enhancement in medulloblastoma. (2014) (16)
Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention (2017) (15)
Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2011) (15)
Prospects of biological and synthetic pharmacotherapies for glioblastoma (2020) (14)
The Case for Selection at CCR 5D 32 (2005) (14)
Organizational challenges in clinical genomic research (2004) (14)
European admixture on the Micronesian island of Kosrae: lessons from complete genetic information (2009) (14)
Genetic association analysis of LARS2 with type 2 diabetes (2009) (14)
Common Genetic Variants and Modification of Penetrance of BRCA 2-Associated Breast Cancer (2010) (14)
Tunneling Towards Capitalism in the Czech Republic (2001) (14)
Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes (2007) (14)
Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010) (13)
Predictors of delayed failure of structural kyphoplasty for pathological compression fractures in cancer patients. (2015) (13)
Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010) (13)
Correction: African Ancestry and Its Correlation to Type 2 Diabetes in African Americans: A Genetic Admixture Analysis in Three U.S. Population Cohorts (2012) (13)
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans (Nature Genetics (2008) 40, (189-197)) (2008) (12)
The Precious legacy : Judaic treasures from the Czechoslovak state collections (1983) (11)
Reply to "Statistical concerns about the GSEA procedure" (2004) (11)
Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study (2016) (10)
Haplotype Analysis of the HSD 17 B 1 Gene and Risk of Breast Cancer : A Comprehensive Approach to Multicenter Analyses of Prospective Cohort Studies (2006) (10)
Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes. (2006) (10)
A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans (2016) (9)
Genetic Variation in the HSD 17 B 1 Gene and Risk of Prostate Cancer (2005) (8)
Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits (2013) (8)
STAT3 Inhibition as a Therapeutic Strategy for Chordoma (2016) (7)
Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant. (2016) (7)
Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project (2016) (7)
The Role of CD133+ Cells in a Recurrent Embryonal Tumor with Abundant Neuropil and True Rosettes (ETANTR) (2014) (6)
Molecular ablation of tumor blood vessels inhibits therapeutic effects of radiation and bevacizumab (2018) (6)
Erratum: Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci (American Journal of Human Genetics (2012) 90 (410-425)) (2012) (6)
Isolation and characterization of immune cells from the tumor microenvironment of genetically engineered pediatric high-grade glioma models using the sleeping beauty transposon system. (2020) (6)
Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries (2018) (6)
Risk and Return for the Clinician-Investigator (2012) (5)
Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer (2010) (5)
Skull Tumors (2018) (5)
The Effect of Interventions to Prevent Type 2 Diabetes on the Development of Diabetic Retinopathy: The DPP/DPPOS Experience (2022) (5)
Imaging Errors in Distinguishing Pituitary Adenomas From Other Sellar Lesions (2021) (4)
Quality of life research in neuro-oncology: a quantitative comparison (2013) (4)
Estimation of the Multiple Testing Burden for Genomewide Association Studies of Common Variants (2007) (4)
On the Classification of Judaic Laws in the Antiquities of Josephus and the Temple Scroll of Qumran (1982) (4)
Identifying relationships among genomic disease regions: predicting= pathogenic SNP associations and rare deletions (2009) (4)
Upsetting the Balance VGF and the Regulation of Body Weight (1999) (4)
ATIM-44. A PHASE I FIRST-IN-HUMAN TRIAL OF TWO ADENOVIRAL VECTORS EXPRESSING HSV1-TK AND FLT3L FOR TREATING NEWLY DIAGNOSED RESECTABLE MALIGNANT GLIOMA: THERAPEUTIC REPROGRAMMING OF THE BRAIN IMMUNE SYSTEM (2019) (4)
Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2018) (4)
Ventricular Volume Change as a Predictor of Shunt-Dependent Hydrocephalus in Aneurysmal Subarachnoid Hemorrhage. (2021) (3)
Utilizing a Mobile Application for Evaluation of Procedural Learning in Neurosurgery. (2020) (3)
Case–control analysis identifies shared properties of rare germline variation in cancer predisposing genes (2019) (3)
2011 Curt Stern Award address. (2012) (3)
Exercise improves health-related quality of life sleep and fatigue domains in adult high- and low-grade glioma patients (2021) (3)
The 2018 World Cancer Research Fund (WCRF)/American Institute for Cancer Research (AICR) score and diabetes risk in the Diabetes Prevention Program Outcomes Study (DPPOS) (2022) (3)
Surgical and Teaching Mission to Mongolia: Experience and Lessons. (2017) (3)
Partners in crime (2005) (3)
Anchors of identity : property, morality, and difference in Czech society (2002) (2)
Case–control analysis identifies shared properties of rare germline variation in cancer predisposing genes (2018) (2)
The Treatise Περι εθων και αιτιων "On Customs and Causes" by Flavius Josephus (1979) (2)
Global Alliance to Create Standards For Sharing Genomic Data (2013) (2)
Haplotype structure and linkage disequilibrium in 26 worldwide populations. (2002) (2)
Normal cerebral ventricular volume growth in childhood. (2020) (2)
Ventriculoscopic Surgery for Cystic Retrochiasmatic Craniopharyngiomas: Indications, Surgical Technique, and Short-Term Patient Outcomes. (2018) (2)
Prostatitis and Urethritis (1999) (1)
Abstract CT105: First in human phase I trial of adenoviral vectors expressing Flt3L and HSV1-TK to treat newly diagnosed high-grade glioma by reprogramming the brain immune system (2020) (1)
Reply to Elson et al. (2007) (1)
Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (2021) (1)
Clonal Hematopoiesis with Somatic Mutations Is a Common, Age-Related Condition Associated with Adverse Outcomes (2014) (1)
Functional characterization of tumor antigen-specific T-cells isolated from the tumor microenvironment of sleeping beauty induced murine glioma models. (2020) (1)
Erratum: Clinical skills development in student-run free clinic volunteers: a multi-trait, multi-measure study (2015) (1)
Genetic Score Based on 34 Con fi rmed Type 2 Diabetes Loci Is Associated With Diabetes Incidence and Regression to Normoglycemia in the Diabetes Prevention Program (2011) (1)
Combined Cytotoxic and Immune Therapy for Primary Adult High-Grade Glioma (2022) (1)
A Strategy for Large-Scale Systematic Pan-Cancer Germline Rare Variation Analysis (2017) (1)
Anterior petrosal (Kawase) approach to petroclival meningioma: 2-dimensional operative video. (2022) (1)
41 – The Inherited Basis of Common Diseases (2012) (1)
Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants. (2023) (1)
DNA Microarrays for Polymorphism Detection and Genotyping: Utility in the Understanding of Complex Neuropsychiatric Diseases (1999) (1)
The Treatise Peri Ethon kai Aition, On Customs and Causes by Flavius Josephus (1979) (1)
42 HAPLOTYPE STRUCTURE AND ASSOCIATION OF COMMON VARIANTS IN THE GENE ENCODING THE ISLET ATP-SENSITIVE POTASSIUM CHANNEL WITH TYPE 2 DIABETES. (2004) (0)
Austin Neurosurgery: Open Access Surgical Management of Adult Glioma: A Contemporary Approach (2017) (0)
Determination of cancer susceptibility in probands with breast and ovarian cancer (2014) (0)
Linkage disequilibrium at PPARG and other genes assessed with dense sets of SNPs. (2001) (0)
LGG-17. DECREASED FUNCTION OF ISOPRENYLCYSTEINE CARBOXYLMETHYLTRANSFERASE RESULTS IN INCREASED SENSITIVITY TO CHEMORADIATION IN OLIGODENDROGLIOMA (2019) (0)
F.31. Lost Inhibitions? T Cell Activation Pathways in SLE (2009) (0)
Statistical concerns about the GSEA procedure (2004) (0)
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants Myocardial Infarction Genetics Consortium * (2009) (0)
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits. (2023) (0)
The Case for Selection at CCR5-Δ32 The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters (2005) (0)
Human Genome Structural Variation January 23 , 2006 (2007) (0)
Genetic Score Based on 34 Confirmed Type 2 Diabetes Loci Is Associated With Diabetes Incidence and Regression to Normoglycemia in the Diabetes Prevention (2011) (0)
Epilogue: What the Future Holds: Genomic Medicine at the Heart of Diabetes Management (2016) (0)
JAMA Peer Reviewers in 2004 (2016) (0)
Contributors (2012) (0)
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (0)
Sa1307 Incidence, Outcome and Factors Affecting Post Liver Transplant Cholestatic Hepatitis C (2014) (0)
Haplotype Block Detection Using Cira Pattern Discovery (2003) (0)
Subject Index Vol. 55, 2003 (2003) (0)
Errata (2011) (0)
FLLL32 STAT3 Inhibition Is Effective Against Chordoma in Vitro (2013) (0)
Running Title : Candidate genes in the Diabetes Prevention Program (2010) (0)
Comparing Power for Gene-based and Low-frequency SNP Tests in Quantitative Traits (a GoT2D Study) (2012) (0)
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes (2018) (0)
Human Genome Sequence Variation and the Inherited Basis of Common Disease (2005) (0)
Contents Vol. 55, 2003 (2003) (0)
The impact of bevacizumab on the occurrence and recurrence of intracranial brain metastases in non-small cell lung cancer (NSCLC) patients. (2012) (0)
Aberrant Motor Regulation in Chordoma (2012) (0)
Supplementary Material (nature09270-s1) (2012) (0)
Vascular compromise in a torsed transposed ulnar nerve case in support of intravenous contrast administration. (2020) (0)
Follow-Up in Myocardial Infarction Genome-Wide Association Study for Coronary Artery Calcification With (2011) (0)
Title : Six new loci associated with body mass index highlight a neuronal influence on body weight regulation (0)
Faculty Opinions recommendation of Genome scans and candidate gene approaches in the study of common diseases and variable drug responses. (2003) (0)
Association for Jewish Studies Newsletter-March 1978 (1978) (0)
Sabeti Positive Natural Selection in the Human Lineage (2012) (0)
NCOG-14. WHITE MATTER CHANGES LINKED TO LANGUAGE RECOVERY IN ADULT GLIOMA (2016) (0)
Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer (2014) (0)
Association de polymorphismes de la proteine kinase c zeta aux diabetes (2001) (0)
The HapMap Project and Low-Penetrance Cancer Susceptibility Alleles (2010) (0)
A haplotype-based study of BRCA2 and breast cancer risk: The multiethnic cohort (2004) (0)
First in Human Phase I Trial of Dual Vector (HSV1-TK, Flt3L) Immunotherapy For The Treatment of Newly Diagnosed High-Grade Glioma: Initial Results (2019) (0)
Vol. 35, 1999 (1999) (0)
Clinical skills development in student-run free clinic volunteers: a multi-trait, multi-measure study (2014) (0)
Testing for an unusual distribution of rare variation (2010) (0)
Subject Index Vol. 35, 1999 (1999) (0)
F.20. Delineating SLE Susceptibility Polymorphisms at the OX40L Locus (2009) (0)
Abstract 2378: Harmonization of next generation sequencing data within consortia for gene discovery in familial breast cancer (2014) (0)
Abstracts 2007 (2007) (0)
Investing in Infrastructure (2009) (0)
Erratum: Clinical skills development in student-run free clinic volunteers: a multi-trait, multi-measure study (2015) (0)
Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae Citation Lowe (2009) (0)
Josephus: The Historian and His Society. Tessa Rajak.Josephus, "The Jewish War". Gaalya Cornfeld, Benjamin Mazar, and Paul L. Maier eds. (1985) (0)
Departures from Home: Czech Perspectives on Difference (2003) (0)
function A novel polymorphism of the human CD40 receptor with enhanced (2008) (0)
GWAS results in the Diabetes Prevention Program EXTENSION OF TYPE 2 DIABETES GENOME-WIDE ASSOCIATION SCAN RESULTS IN THE DIABETES PREVENTION PROGRAM (2008) (0)
Sequencing of Human Exomes Evolution and Functional Impact of Rare Coding Variation from Deep (2013) (0)
Copy-number variation and association studies of human disease. Commentary (2007) (0)
An Imminent Approach for Genome Sequence and Analysis using Map Reduce (2018) (0)
A Genome-wide Screen for Genetic Variants Affecting the Expression of Immunologically Relevant Cell Surface Markers (2007) (0)
Chapter 4 – Genetics of Endocrinology (2016) (0)
NpgRJ_Ng_2007-27 1..6 (2007) (0)
Rare loss of function variants in candidate genes and risk of colorectal cancer (2018) (0)
Genomics: The tough new variants (2010) (0)
THE ROLE OF GENETICS IN ENDOCRINOLOGY (2015) (0)
Response to Wang et al. (2005) (0)

This paper list is powered by the following services:

Other Resources About David Altshuler

en.wikipedia.org

What Schools Are Affiliated With David Altshuler ?

David Altshuler is affiliated with the following schools:

Image Attributions

Image Source for David Altshuler