PubRank

Stacey Gabriel

Author PubWeight™ 545.06‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010 97.51
2 EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 2004 61.56
3 Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell 2010 39.09
4 The landscape of somatic copy-number alteration across human cancers. Nature 2010 31.88
5 Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol 2009 27.17
6 Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 2013 19.87
7 Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005 17.41
8 Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012 17.12
9 Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat Biotechnol 2013 16.13
10 Calibrating a coalescent simulation of human genome sequence variation. Genome Res 2005 15.04
11 New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet 2007 13.76
12 Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012 13.71
13 High-throughput oncogene mutation profiling in human cancer. Nat Genet 2007 12.68
14 Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet 2012 12.10
15 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet 2008 12.07
16 The somatic genomic landscape of glioblastoma. Cell 2013 11.73
17 SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N Engl J Med 2011 11.07
18 Advances in understanding cancer genomes through second-generation sequencing. Nat Rev Genet 2010 10.15
19 Evolution and impact of subclonal mutations in chronic lymphocytic leukemia. Cell 2013 9.24
20 Gene expression in fixed tissues and outcome in hepatocellular carcinoma. N Engl J Med 2008 9.20
21 Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 2012 8.91
22 Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet 2010 6.74
23 Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med 2014 6.12
24 Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. N Engl J Med 2015 5.71
25 Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet 2011 5.58
26 Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med 2014 5.47
27 A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries. Genome Biol 2011 5.11
28 Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med 2014 4.94
29 Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain. PLoS Med 2006 4.63
30 The functional spectrum of low-frequency coding variation. Genome Biol 2011 4.42
31 De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet 2009 3.86
32 Integrative transcriptome analysis reveals common molecular subclasses of human hepatocellular carcinoma. Cancer Res 2009 3.77
33 Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet 2010 3.66
34 Prognostically relevant gene signatures of high-grade serous ovarian carcinoma. J Clin Invest 2012 3.64
35 Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification. Nucleic Acids Res 2004 3.37
36 Drug-sensitive FGFR2 mutations in endometrial carcinoma. Proc Natl Acad Sci U S A 2008 3.30
37 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
38 Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 2012 2.33
39 Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids. Hum Mol Genet 2004 2.14
40 Prognostic gene expression signature for patients with hepatitis C-related early-stage cirrhosis. Gastroenterology 2013 2.13
41 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
42 Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science 2012 1.65
43 Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet 2013 1.53
44 Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet 2013 1.52
45 Exome sequencing in suspected monogenic dyslipidemias. Circ Cardiovasc Genet 2015 1.51
46 Germline mutations affecting Gα11 in hypoparathyroidism. N Engl J Med 2013 1.43
47 Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. J Med Genet 2012 1.32
48 Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping. Hum Mol Genet 2004 1.29
49 AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 2013 1.25
50 DGAT1 mutation is linked to a congenital diarrheal disorder. J Clin Invest 2012 1.07
51 Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease. Circ Res 2017 1.06
52 A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. Hum Mutat 2012 1.05
53 Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol 2013 1.03
54 Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. Eur Heart J 2012 0.99
55 Polymorphisms in signal transducer and activator of transcription 3 and lung function in asthma. Respir Res 2005 0.97
56 Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet 2013 0.95
57 Targeted exon sequencing by in-solution hybrid selection. Curr Protoc Hum Genet 2010 0.95
58 A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia. Arterioscler Thromb Vasc Biol 2013 0.89
59 Combinatorics and next-generation sequencing. Nat Biotechnol 2009 0.85
60 DNA sequence variants in epithelium-specific ETS-2 and ETS-3 are not associated with asthma. Am J Respir Crit Care Med 2002 0.83
61 Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet 2013 0.81
62 Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet 2013 0.81