Professor of Genetics, Massachusetts General Hospital

Internal Medicine

Dr. David M. Altshuler, MD

Doctor David M. Altshuler, MD works in the field of Internal Medicine. He received 2 awards: "Elected Member" and "Whos Who in Medicine and Healthcare". David Altshuler is a published doctor. He published 47 publications, including: 'Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.'

Publications

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
High-throughput luminescent reporter of insulin secretion for discovering regulators of pancreatic Beta-cell function.
Age-related clonal hematopoiesis associated with adverse outcomes.
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Genetic modifiers of EGFR dependence in non-small cell lung cancer.
A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity.
Pathways targeted by anti-diabetes drugs are enriched for multiple genes associated with type 2 diabetes risk.
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.
Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant.
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.
Simulation of finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland.
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.
Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants.
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.
Evaluating empirical bounds on complex disease genetic architecture.
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.
Common variants associated with plasma triglycerides and risk for coronary artery disease.
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.
Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia.
Validating therapeutic targets through human genetics.
Branched chain and aromatic amino acids change acutely following two medical therapies for type 2 diabetes mellitus.
Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk.
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.
Informed conditioning on clinical covariates increases power in case-control association studies.
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.
Efficiency and power as a function of sequence coverage, SNP array density, and imputation.
Analysis of case-control association studies with known risk variants.
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.
DASH: A Method for Identical-by-Descent Haplotype Mapping Uncovers Association with Recent Variation.
Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae.
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
A novel polymorphism of the human CD40 receptor with enhanced function.
Polymorphisms associated with cholesterol and risk of cardiovascular events.
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
Copy-number variation and association studies of human disease.
Challenges and standards in integrating surveys of structural variation.
Copy number variation: new insights in genome diversity.
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome.
Biases and reconciliation in estimates of linkage disequilibrium in the human genome.
Prospective study of the association between the proline to alanine codon 12 polymorphism in the PPARgamma gene and type 2 diabetes.
Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.

Schools

Harvard Medical School
Wayne State University
Mass Gen Hospital

Doctors Specialties

Internal Medicine

Accepted Insurances

Awards

Elected Member
Whos Who in Medicine and Healthcare

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