Elliott H Margulies

Author PubWeight™ 159.75‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 2007 75.09
2 High-resolution mapping and characterization of open chromatin across the genome. Cell 2008 15.93
3 Accurate and comprehensive sequencing of personal genomes. Genome Res 2011 8.99
4 A high-resolution map of human evolutionary constraint using 29 mammals. Nature 2011 8.67
5 Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res 2010 5.76
6 Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS). Genome Res 2005 5.71
7 Pebble and rock band: heuristic resolution of repeats and scaffolding in the velvet short-read de novo assembler. PLoS One 2009 4.60
8 Local DNA topography correlates with functional noncoding regions of the human genome. Science 2009 4.18
9 An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science 2009 3.29
10 Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma. Nat Genet 2011 2.60
11 Sequencing studies in human genetics: design and interpretation. Nat Rev Genet 2013 2.27
12 Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms. Bioinformatics 2013 2.25
13 Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci. Cell Metab 2010 2.21
14 A transcriptomic atlas of mouse neocortical layers. Neuron 2011 2.08
15 Early history of mammals is elucidated with the ENCODE multiple species sequencing data. PLoS Genet 2007 1.92
16 Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation. Blood 2011 1.50
17 Functional constraint and small insertions and deletions in the ENCODE regions of the human genome. Genome Biol 2007 1.43
18 Genome-wide DNA methylation profiles in hematopoietic stem and progenitor cells reveal overrepresentation of ETS transcription factor binding sites. Genome Res 2012 1.37
19 Serial analysis of gene expression in the corneal endothelium of Fuchs' dystrophy. Invest Ophthalmol Vis Sci 2003 1.36
20 Large-scale sequencing of the CD33-related Siglec gene cluster in five mammalian species reveals rapid evolution by multiple mechanisms. Proc Natl Acad Sci U S A 2004 1.36
21 Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma. Proc Natl Acad Sci U S A 2013 1.35
22 Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements. Proc Natl Acad Sci U S A 2007 1.28
23 Extensive evolutionary changes in regulatory element activity during human origins are associated with altered gene expression and positive selection. PLoS Genet 2012 1.22
24 A new strategy for genome assembly using short sequence reads and reduced representation libraries. Genome Res 2010 1.22
25 Human NPY promoter variation rs16147:T>C as a moderator of prefrontal NPY gene expression and negative affect. Hum Mutat 2010 1.06
26 Gene expression in donor corneal endothelium. Arch Ophthalmol 2003 0.98
27 Integrative biology and the developing limb bud. Evol Dev 2002 0.97
28 Adult pallium transcriptomes surprise in not reflecting predicted homologies across diverse chicken and mouse pallial sectors. Proc Natl Acad Sci U S A 2013 0.94
29 SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach. BMC Genomics 2007 0.89
30 Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes. PLoS Genet 2012 0.87
31 Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer. Genomics 2005 0.86
32 National Cancer Institute Prostate Cancer Genetics Workshop. Cancer Res 2011 0.82
33 The relationship between fine scale DNA structure, GC content, and functional elements in 1% of the human genome. Genome Inform 2008 0.80
34 A bioinformatics approach for determining sample identity from different lanes of high-throughput sequencing data. PLoS One 2011 0.77