PubRank

David Altshuler

Author PubWeight™ 1598.38‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A map of human genome variation from population-scale sequencing. Nature 2010 121.13
2 The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010 97.51
3 A second generation human haplotype map of over 3.1 million SNPs. Nature 2007 85.39
4 A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011 59.36
5 PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet 2003 53.59
6 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007 51.70
7 The structure of haplotype blocks in the human genome. Science 2002 50.88
8 Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 2008 35.06
9 Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010 28.21
10 Efficiency and power in genetic association studies. Nat Genet 2005 25.56
11 Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 2008 22.35
12 Detecting recent positive selection in the human genome from haplotype structure. Nature 2002 22.00
13 Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet 2008 20.66
14 Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008 19.71
15 Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 2008 19.55
16 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 2010 17.89
17 Genome-wide detection and characterization of positive selection in human populations. Nature 2007 17.27
18 Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012 17.12
19 Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet 2010 16.96
20 Assessing the impact of population stratification on genetic association studies. Nat Genet 2004 16.28
21 Replicating genotype-phenotype associations. Nature 2007 16.11
22 Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 2008 15.89
23 Calibrating a coalescent simulation of human genome sequence variation. Genome Res 2005 15.04
24 Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet 2006 14.76
25 Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet 2007 14.37
26 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet 2011 13.25
27 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 2011 13.25
28 Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet 2009 12.44
29 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. N Engl J Med 2007 12.24
30 Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet 2009 12.19
31 Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet 2012 12.10
32 Methods for high-density admixture mapping of disease genes. Am J Hum Genet 2004 12.02
33 Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol 2008 11.28
34 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet 2012 11.09
35 A high-density admixture map for disease gene discovery in african americans. Am J Hum Genet 2004 10.87
36 Variants in MTNR1B influence fasting glucose levels. Nat Genet 2008 10.85
37 Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men. Proc Natl Acad Sci U S A 2006 10.32
38 Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet 2008 9.52
39 Demonstrating stratification in a European American population. Nat Genet 2005 9.49
40 Testing for an unusual distribution of rare variants. PLoS Genet 2011 9.28
41 Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 2012 8.91
42 Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007 8.74
43 Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med 2008 8.70
44 Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet 2009 8.39
45 Comparison of fine-scale recombination rates in humans and chimpanzees. Science 2005 7.86
46 TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. N Engl J Med 2006 7.75
47 Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet 2012 7.59
48 Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet 2006 7.49
49 Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet 2008 7.07
50 A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet 2006 6.98
51 Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med 2010 6.84
52 Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet 2010 6.66
53 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. Am J Hum Genet 2005 6.61
54 Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle. Proc Natl Acad Sci U S A 2004 6.53
55 Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 2008 6.42
56 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet 2009 6.31
57 The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet 2012 6.15
58 Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med 2014 6.12
59 Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS Genet 2010 5.79
60 Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study. Hum Hered 2003 5.78
61 Detection of regulatory variation in mouse genes. Nat Genet 2002 5.76
62 Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet 2011 5.58
63 Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med 2014 5.47
64 New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet 2009 5.12
65 Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. PLoS Genet 2008 5.08
66 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. Nat Genet 2010 4.96
67 Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med 2014 4.94
68 Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion. Nat Genet 2008 4.84
69 Transferability of tag SNPs in genetic association studies in multiple populations. Nat Genet 2006 4.78
70 Whole population, genome-wide mapping of hidden relatedness. Genome Res 2008 4.72
71 Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A 2007 4.71
72 The Lin28/let-7 axis regulates glucose metabolism. Cell 2011 4.65
73 Guilt beyond a reasonable doubt. Nat Genet 2007 4.56
74 The functional spectrum of low-frequency coding variation. Genome Biol 2011 4.42
75 Completing the map of human genetic variation. Nature 2007 4.38
76 Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals. Diabetes 2006 4.36
77 Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals. Hum Hered 2003 4.34
78 Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes 2008 4.20
79 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet 2014 4.13
80 Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes 2010 4.07
81 Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes 2007 3.84
82 The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. Annu Rev Genomics Hum Genet 2003 3.67
83 Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Nat Genet 2009 3.52
84 Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. J Clin Invest 2008 3.51
85 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet 2011 3.40
86 Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification. Nucleic Acids Res 2004 3.37
87 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet 2010 3.31
88 TXNIP regulates peripheral glucose metabolism in humans. PLoS Med 2007 3.27
89 Consistent association of type 2 diabetes risk variants found in europeans in diverse racial and ethnic groups. PLoS Genet 2010 3.27
90 Human genome sequence variation and the influence of gene history, mutation and recombination. Nat Genet 2002 3.24
91 Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet 2012 3.21
92 Validating therapeutic targets through human genetics. Nat Rev Drug Discov 2013 2.94
93 Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet 2013 2.92
94 Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PLoS Genet 2010 2.68
95 Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. Am J Hum Genet 2006 2.60
96 Quality and completeness of SNP databases. Nat Genet 2003 2.60
97 Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico. Nature 2013 2.57
98 Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet 2012 2.53
99 Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes 2004 2.52
100 The multiethnic cohort study: exploring genes, lifestyle and cancer risk. Nat Rev Cancer 2004 2.47
101 Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction. Nat Genet 2011 2.42
102 Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nat Genet 2007 2.38
103 Once and again-issues surrounding replication in genetic association studies. J Clin Endocrinol Metab 2002 2.35
104 Efficiency and power as a function of sequence coverage, SNP array density, and imputation. PLoS Comput Biol 2012 2.29
105 Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. J Am Coll Cardiol 2010 2.17
106 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. Diabetes 2011 2.17
107 Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids. Hum Mol Genet 2004 2.14
108 Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet 2006 2.07
109 Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program. Diabetes 2010 2.02
110 Searching for signals of evolutionary selection in 168 genes related to immune function. Hum Genet 2005 1.97
111 Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. Circulation 2011 1.96
112 Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat Genet 2013 1.91
113 Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet 2013 1.88
114 A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort. Hum Mol Genet 2003 1.88
115 The case for selection at CCR5-Delta32. PLoS Biol 2005 1.83
116 Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women. Cancer Res 2007 1.82
117 Tissue-specific alternative splicing of TCF7L2. Hum Mol Genet 2009 1.80
118 Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants. Genet Epidemiol 2011 1.78
119 Influence of 9p21.3 genetic variants on clinical and angiographic outcomes in early-onset myocardial infarction. J Am Coll Cardiol 2011 1.73
120 A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One 2012 1.72
121 Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program. Diabetes 2008 1.71
122 Genetic variation in the HSD17B1 gene and risk of prostate cancer. PLoS Genet 2005 1.67
123 A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. Circ Cardiovasc Genet 2011 1.63
124 Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. Arterioscler Thromb Vasc Biol 2008 1.63
125 Underlying genetic models of inheritance in established type 2 diabetes associations. Am J Epidemiol 2009 1.60
126 Informed conditioning on clinical covariates increases power in case-control association studies. PLoS Genet 2012 1.57
127 Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program. Diabetes 2007 1.51
128 Effects of the type 2 diabetes-associated PPARG P12A polymorphism on progression to diabetes and response to troglitazone. J Clin Endocrinol Metab 2007 1.49
129 Peritransplant absolute lymphocyte count as a predictive factor for advanced recurrence of hepatitis C after liver transplantation. Hepatology 2013 1.48
130 Common genetic variation in IGF1 and prostate cancer risk in the Multiethnic Cohort. J Natl Cancer Inst 2006 1.41
131 Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease. Nat Genet 2009 1.40
132 Human genome sequence variation and the search for genes influencing stroke. Stroke 2003 1.38
133 Clinical skills development in student-run free clinic volunteers: a multi-trait, multi-measure study. BMC Med Educ 2014 1.38
134 Evaluating empirical bounds on complex disease genetic architecture. Nat Genet 2013 1.37
135 Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci U S A 2007 1.35
136 Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes. Diabetes 2004 1.32
137 Risk and return for the clinician-investigator. Sci Transl Med 2012 1.28
138 From Darwin's finches to canaries in the coal mine--mining the genome for new biology. N Engl J Med 2008 1.27
139 Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity. Diabetes 2006 1.26
140 Partners in crime. Nat Genet 2005 1.26
141 A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk. Cancer Res 2005 1.23
142 Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes. Diabetes 2005 1.22
143 Transferability of tag SNPs to capture common genetic variation in DNA repair genes across multiple populations. Pac Symp Biocomput 2006 1.21
144 Analysis of case-control association studies with known risk variants. Bioinformatics 2012 1.20
145 Systematic evaluation of genetic variation at the androgen receptor locus and risk of prostate cancer in a multiethnic cohort study. Am J Hum Genet 2004 1.20
146 Haplotype analysis of the HSD17B1 gene and risk of breast cancer: a comprehensive approach to multicenter analyses of prospective cohort studies. Cancer Res 2006 1.16
147 5' flanking variants of resistin are associated with obesity. Diabetes 2002 1.16
148 African ancestry and its correlation to type 2 diabetes in African Americans: a genetic admixture analysis in three U.S. population cohorts. PLoS One 2012 1.12
149 Organizational challenges in clinical genomic research. Nature 2004 1.12
150 Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. Diabetes 2005 1.12
151 Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort. Hum Mol Genet 2004 1.10
152 The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects. Hum Mol Genet 2009 1.09
153 Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. Int J Cancer 2007 1.09
154 Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis. J Natl Cancer Inst 2005 1.05
155 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. J Clin Endocrinol Metab 2010 1.04
156 Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol 2013 1.03
157 CYP17 genetic variation and risk of breast and prostate cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). Cancer Epidemiol Biomarkers Prev 2007 1.00
158 Triglyceride response to an intensive lifestyle intervention is enhanced in carriers of the GCKR Pro446Leu polymorphism. J Clin Endocrinol Metab 2011 1.00
159 Strong association of the APOA5-1131T>C gene variant and early-onset acute myocardial infarction. Atherosclerosis 2010 1.00
160 Haplotypes of the estrogen receptor beta gene and breast cancer risk. Int J Cancer 2008 0.99
161 Genetic modulation of lipid profiles following lifestyle modification or metformin treatment: the Diabetes Prevention Program. PLoS Genet 2012 0.99
162 Igf-I genetic variation and breast cancer: the multiethnic cohort. Cancer Epidemiol Biomarkers Prev 2006 0.97
163 Branched chain and aromatic amino acids change acutely following two medical therapies for type 2 diabetes mellitus. Metabolism 2013 0.97
164 A systematic assessment of common genetic variation in CYP11A and risk of breast cancer. Cancer Res 2006 0.94
165 Sequence variants of estrogen receptor beta and risk of prostate cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. Cancer Epidemiol Biomarkers Prev 2007 0.92
166 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. BMC Med Genet 2007 0.91
167 High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people. Diabetes 2006 0.91
168 Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction. PLoS One 2012 0.86
169 Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people. Diabetes 2005 0.85
170 Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes. Diabetes 2006 0.85
171 The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people. Diabetes 2006 0.85
172 Differences in vascular endothelial growth factor receptor expression and correlation with the degree of enhancement in medulloblastoma. J Neurosurg Pediatr 2014 0.81
173 Quality of life research in neuro-oncology: a quantitative comparison. J Neurooncol 2013 0.75