PubRank

Stacey B Gabriel

Author PubWeight™ 860.99‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A second generation human haplotype map of over 3.1 million SNPs. Nature 2007 85.39
2 A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011 59.36
3 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007 51.70
4 Integrating common and rare genetic variation in diverse human populations. Nature 2010 32.30
5 The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity. Nature 2012 31.78
6 Somatic mutations affect key pathways in lung adenocarcinoma. Nature 2008 30.02
7 Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010 28.21
8 Efficiency and power in genetic association studies. Nat Genet 2005 25.56
9 Detecting recent positive selection in the human genome from haplotype structure. Nature 2002 22.00
10 Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 2008 19.55
11 Initial genome sequencing and analysis of multiple myeloma. Nature 2011 17.28
12 Genome-wide detection and characterization of positive selection in human populations. Nature 2007 17.27
13 Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med 2007 17.06
14 The mutational landscape of head and neck squamous cell carcinoma. Science 2011 16.88
15 Characterizing the cancer genome in lung adenocarcinoma. Nature 2007 16.48
16 Assessing the impact of population stratification on genetic association studies. Nat Genet 2004 16.28
17 Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 2008 15.89
18 Common deletion polymorphisms in the human genome. Nat Genet 2006 15.66
19 The genomic complexity of primary human prostate cancer. Nature 2011 14.06
20 A landscape of driver mutations in melanoma. Cell 2012 12.61
21 Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 2008 12.51
22 Prepublication data sharing. Nature 2009 12.24
23 Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet 2009 12.19
24 Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell 2012 11.69
25 Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet 2008 10.49
26 Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer. Nat Genet 2012 9.93
27 Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007 8.74
28 Integrative analysis of the melanoma transcriptome. Genome Res 2010 8.46
29 Comparison of fine-scale recombination rates in humans and chimpanzees. Science 2005 7.86
30 Melanoma genome sequencing reveals frequent PREX2 mutations. Nature 2012 7.77
31 Sequence analysis of mutations and translocations across breast cancer subtypes. Nature 2012 7.76
32 Pan-cancer patterns of somatic copy number alteration. Nat Genet 2013 7.73
33 Punctuated evolution of prostate cancer genomes. Cell 2013 7.23
34 Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One 2008 7.16
35 Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med 2014 6.89
36 Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med 2010 6.84
37 High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. Cancer Discov 2011 5.30
38 Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. Nature 2012 5.23
39 The genetic landscape of high-risk neuroblastoma. Nat Genet 2013 4.71
40 Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity. Nat Genet 2013 4.48
41 The genetic landscape of clinical resistance to RAF inhibition in metastatic melanoma. Cancer Discov 2013 3.71
42 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 2012 3.41
43 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet 2010 3.31
44 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
45 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet 2011 3.07
46 Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma. N Engl J Med 2015 3.00
47 Pacific biosciences sequencing technology for genotyping and variation discovery in human data. BMC Genomics 2012 2.92
48 Candidate gene association resource (CARe): design, methods, and proof of concept. Circ Cardiovasc Genet 2010 2.91
49 Activating mTOR mutations in a patient with an extraordinary response on a phase I trial of everolimus and pazopanib. Cancer Discov 2014 2.79
50 Using whole-exome sequencing to identify inherited causes of autism. Neuron 2013 2.74
51 MAP kinase pathway alterations in BRAF-mutant melanoma patients with acquired resistance to combined RAF/MEK inhibition. Cancer Discov 2013 2.61
52 Quality and completeness of SNP databases. Nat Genet 2003 2.60
53 Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron 2013 2.45
54 Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Am J Hum Genet 2012 1.90
55 Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene. Am J Hum Genet 2010 1.89
56 Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet 2012 1.86
57 Increased burden of cardiovascular disease in carriers of APOL1 genetic variants. Circ Res 2013 1.82
58 Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability. Genome Res 2012 1.82
59 Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science 2012 1.74
60 Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation. Nucleic Acids Res 2013 1.70
61 Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet 2011 1.70
62 Spectrum of somatic mitochondrial mutations in five cancers. Proc Natl Acad Sci U S A 2012 1.63
63 Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet 2012 1.60
64 Common genetic variation in five thrombosis genes and relations to plasma hemostatic protein level and cardiovascular disease risk. Arterioscler Thromb Vasc Biol 2006 1.36
65 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2014 1.24
66 Comprehensive survey of common genetic variation at the plasminogen activator inhibitor-1 locus and relations to circulating plasminogen activator inhibitor-1 levels. Circulation 2005 1.21
67 Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease. J Lipid Res 2010 1.03
68 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. PLoS One 2012 0.98
69 Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma. Cell Rep 2016 0.96
70 PAI-1 Gene 4G/5G polymorphism and risk of type 2 diabetes in a population-based sample. Obesity (Silver Spring) 2006 0.90
71 Large multiethnic Candidate Gene Study for C-reactive protein levels: identification of a novel association at CD36 in African Americans. Hum Genet 2014 0.82
72 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2015 0.80
73 Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab. Mol Cancer 2014 0.80
74 Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance. Neurology 2012 0.80