Published in Nucleic Acids Res on July 01, 2003
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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62
Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science (2008) 36.02
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Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet (2012) 5.28
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J Clin Invest (2008) 5.05
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet (2005) 4.98
The genetic landscape of high-risk neuroblastoma. Nat Genet (2013) 4.71
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Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
Clonal evolution in breast cancer revealed by single nucleus genome sequencing. Nature (2014) 4.13
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet (2008) 4.12
Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nat Genet (2011) 4.02
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Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet (2011) 3.91
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Whole-genome sequencing of rifampicin-resistant Mycobacterium tuberculosis strains identifies compensatory mutations in RNA polymerase genes. Nat Genet (2011) 3.44
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43
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An integrative variant analysis suite for whole exome next-generation sequencing data. BMC Bioinformatics (2012) 3.41
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet (2012) 3.30
Massively parallel sequencing and rare disease. Hum Mol Genet (2010) 3.28
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet (2011) 3.20
Common variants in the trichohyalin gene are associated with straight hair in Europeans. Am J Hum Genet (2009) 3.18
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc Natl Acad Sci U S A (2010) 3.13
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood (2008) 3.02
Interpreting noncoding genetic variation in complex traits and human disease. Nat Biotechnol (2012) 3.01
Functional impact bias reveals cancer drivers. Nucleic Acids Res (2012) 2.96
Comprehensive approach to analyzing rare genetic variants. PLoS One (2010) 2.93
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet (2007) 2.91
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res (2011) 2.89
Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet (2011) 2.86
Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics (2010) 2.85
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings. J Hepatol (2010) 2.82
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood (2010) 2.77
In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat (2008) 2.73
Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum Mutat (2008) 2.69
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet (2008) 2.68
Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation (2013) 2.66
Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma. Nat Genet (2011) 2.60
The BioMart community portal: an innovative alternative to large, centralized data repositories. Nucleic Acids Res (2015) 2.60
Discovery of induced point mutations in maize genes by TILLING. BMC Plant Biol (2004) 2.57
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico. Nature (2013) 2.57
A modified TILLING approach to detect induced mutations in tetraploid and hexaploid wheat. BMC Plant Biol (2009) 2.57
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood (2011) 2.55
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J (2008) 2.48
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet (2011) 2.48
Discovery of chemically induced mutations in rice by TILLING. BMC Plant Biol (2007) 2.46
Copy number and targeted mutational analysis reveals novel somatic events in metastatic prostate tumors. Genome Res (2010) 2.41
POT1 loss-of-function variants predispose to familial melanoma. Nat Genet (2014) 2.40
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet (2012) 2.34
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2008) 2.33
Enrichment of sequencing targets from the human genome by solution hybridization. Genome Biol (2009) 2.32
Computational and statistical approaches to analyzing variants identified by exome sequencing. Genome Biol (2011) 2.32
High-throughput Phenotyping of Lung Cancer Somatic Mutations. Cancer Cell (2016) 2.31
Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes. Genome Res (2010) 2.31
Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30
TILLING. Traditional mutagenesis meets functional genomics. Plant Physiol (2004) 2.29
Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant. N Engl J Med (2013) 2.28
SDM--a server for predicting effects of mutations on protein stability and malfunction. Nucleic Acids Res (2011) 2.28
Bioinformatics challenges for personalized medicine. Bioinformatics (2011) 2.28
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Arch Neurol (2010) 2.19
Whole-genome sequencing and intensive analysis of the undomesticated soybean (Glycine soja Sieb. and Zucc.) genome. Proc Natl Acad Sci U S A (2010) 2.15
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet (2009) 2.14
dbSNP: the NCBI database of genetic variation. Nucleic Acids Res (2001) 76.97
The SWISS-PROT protein sequence database and its supplement TrEMBL in 2000. Nucleic Acids Res (2000) 67.44
Human non-synonymous SNPs: server and survey. Nucleic Acids Res (2002) 50.45
Information content of binding sites on nucleotide sequences. J Mol Biol (1986) 30.48
Predicting deleterious amino acid substitutions. Genome Res (2001) 28.95
Prediction of deleterious human alleles. Hum Mol Genet (2001) 21.00
Database resources of the National Center for Biotechnology Information: 2002 update. Nucleic Acids Res (2002) 19.40
Accounting for human polymorphisms predicted to affect protein function. Genome Res (2002) 14.10
Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation. J Mol Biol (2001) 9.18
Evaluation of structural and evolutionary contributions to deleterious mutation prediction. J Mol Biol (2002) 7.79
Human gene mutation database-a biomedical information and research resource. Hum Mutat (2000) 6.87
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc Natl Acad Sci U S A (2003) 5.77
Lac repressor genetic map in real space. Trends Biochem Sci (1997) 5.56
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62
Accounting for human polymorphisms predicted to affect protein function. Genome Res (2002) 14.10
Identification of functional elements and regulatory circuits by Drosophila modENCODE. Science (2010) 12.39
Genome-wide analysis of Arabidopsis thaliana DNA methylation uncovers an interdependence between methylation and transcription. Nat Genet (2006) 11.88
Unlocking the secrets of the genome. Nature (2009) 11.80
Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet (2006) 9.80
The histone variant H3.3 marks active chromatin by replication-independent nucleosome assembly. Mol Cell (2002) 9.80
Integrative analysis of the Caenorhabditis elegans genome by the modENCODE project. Science (2010) 9.78
The epigenetic progenitor origin of human cancer. Nat Rev Genet (2006) 9.65
Genome-scale profiling of histone H3.3 replacement patterns. Nat Genet (2005) 7.22
Histone H3.3 is enriched in covalent modifications associated with active chromatin. Proc Natl Acad Sci U S A (2004) 4.88
Genome-wide kinetics of nucleosome turnover determined by metabolic labeling of histones. Science (2010) 4.72
Centromeric nucleosomes induce positive DNA supercoils. Cell (2009) 4.57
DNA demethylation in the Arabidopsis genome. Proc Natl Acad Sci U S A (2007) 4.55
SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res (2012) 4.45
Histone variants--ancient wrap artists of the epigenome. Nat Rev Mol Cell Biol (2010) 4.45
Large-scale discovery of induced point mutations with high-throughput TILLING. Genome Res (2003) 4.39
Histone H2A.Z and DNA methylation are mutually antagonistic chromatin marks. Nature (2008) 4.20
Histone replacement marks the boundaries of cis-regulatory domains. Science (2007) 4.06
Spectrum of chemically induced mutations from a large-scale reverse-genetic screen in Arabidopsis. Genetics (2003) 3.70
Sequencing of a rice centromere uncovers active genes. Nat Genet (2004) 3.66
CODEHOP (COnsensus-DEgenerate Hybrid Oligonucleotide Primer) PCR primer design. Nucleic Acids Res (2003) 3.55
DNA methylation profiling identifies CG methylation clusters in Arabidopsis genes. Curr Biol (2005) 3.54
Phylogenomics of the nucleosome. Nat Struct Biol (2003) 3.52
DNA demethylation by DNA repair. Trends Genet (2009) 3.49
Genome-wide profiling of DNA methylation reveals transposon targets of CHROMOMETHYLASE3. Curr Biol (2002) 3.37
Extensive demethylation of repetitive elements during seed development underlies gene imprinting. Science (2009) 3.33
A comprehensive map of insulator elements for the Drosophila genome. PLoS Genet (2010) 3.25
Tetrameric structure of centromeric nucleosomes in interphase Drosophila cells. PLoS Biol (2007) 3.25
Histone H3 variants specify modes of chromatin assembly. Proc Natl Acad Sci U S A (2002) 3.06
Centromeric localization and adaptive evolution of an Arabidopsis histone H3 variant. Plant Cell (2002) 2.72
Regulation of nucleosome dynamics by histone modifications. Nat Struct Mol Biol (2013) 2.71
Spreading of silent chromatin: inaction at a distance. Nat Rev Genet (2006) 2.64
Discovery of induced point mutations in maize genes by TILLING. BMC Plant Biol (2004) 2.57
Major evolutionary transitions in centromere complexity. Cell (2009) 2.49
Discovery of chemically induced mutations in rice by TILLING. BMC Plant Biol (2007) 2.46
Efficient discovery of DNA polymorphisms in natural populations by Ecotilling. Plant J (2004) 2.45
A simple method for gene expression and chromatin profiling of individual cell types within a tissue. Dev Cell (2010) 2.24
Epigenome characterization at single base-pair resolution. Proc Natl Acad Sci U S A (2011) 2.22
Conflict begets complexity: the evolution of centromeres. Curr Opin Genet Dev (2002) 2.14
Mismatch cleavage by single-strand specific nucleases. Nucleic Acids Res (2004) 2.14
TILLING to detect induced mutations in soybean. BMC Plant Biol (2008) 2.13
Genome-wide analysis of DNA methylation patterns. Development (2007) 2.13
A protocol for TILLING and Ecotilling in plants and animals. Nat Protoc (2006) 2.09
Chromatin immunoprecipitation reveals that the 180-bp satellite repeat is the key functional DNA element of Arabidopsis thaliana centromeres. Genetics (2003) 2.05
Maize centromeres: organization and functional adaptation in the genetic background of oat. Plant Cell (2004) 2.01
Chaperone-mediated assembly of centromeric chromatin in vitro. Proc Natl Acad Sci U S A (2006) 1.98
Distinct HP1 and Su(var)3-9 complexes bind to sets of developmentally coexpressed genes depending on chromosomal location. Genes Dev (2003) 1.96
TILLING: practical single-nucleotide mutation discovery. Plant J (2006) 1.94
Adaptive evolution of centromere proteins in plants and animals. J Biol (2004) 1.90
The INTACT method for cell type-specific gene expression and chromatin profiling in Arabidopsis thaliana. Nat Protoc (2010) 1.87
A unified phylogeny-based nomenclature for histone variants. Epigenetics Chromatin (2012) 1.82
Structure, dynamics, and evolution of centromeric nucleosomes. Proc Natl Acad Sci U S A (2007) 1.81
Maintenance of chromatin states: an open-and-shut case. Curr Opin Cell Biol (2003) 1.72
High-throughput TILLING for functional genomics. Methods Mol Biol (2003) 1.70
Changes in H2A.Z occupancy and DNA methylation during B-cell lymphomagenesis. Genome Res (2010) 1.69
Centromere targeting element within the histone fold domain of Cid. Mol Cell Biol (2002) 1.64
Epigenetic consequences of nucleosome dynamics. Cell (2002) 1.60
Doxorubicin enhances nucleosome turnover around promoters. Curr Biol (2013) 1.58
Positive selection drives the evolution of rhino, a member of the heterochromatin protein 1 family in Drosophila. PLoS Genet (2005) 1.57
Chromatin and siRNA pathways cooperate to maintain DNA methylation of small transposable elements in Arabidopsis. Genome Biol (2005) 1.55
Automated band mapping in electrophoretic gel images using background information. Nucleic Acids Res (2005) 1.49
Recurrent evolution of DNA-binding motifs in the Drosophila centromeric histone. Proc Natl Acad Sci U S A (2002) 1.48
Tripartite organization of centromeric chromatin in budding yeast. Proc Natl Acad Sci U S A (2011) 1.47
Genomic analysis of parent-of-origin allelic expression in Arabidopsis thaliana seeds. PLoS One (2011) 1.45
Germline histone dynamics and epigenetics. Curr Opin Cell Biol (2007) 1.42
Histone H3.3 variant dynamics in the germline of Caenorhabditis elegans. PLoS Genet (2006) 1.42
H2A.Z nucleosomes enriched over active genes are homotypic. Nat Struct Mol Biol (2010) 1.41
DNA methylation dynamics in plant genomes. Biochim Biophys Acta (2007) 1.41
Transcription and histone modifications in the recombination-free region spanning a rice centromere. Plant Cell (2005) 1.37
Adaptive evolution of the histone fold domain in centromeric histones. Mol Biol Evol (2004) 1.35
Cell-type-specific nuclei purification from whole animals for genome-wide expression and chromatin profiling. Genome Res (2012) 1.32
A native chromatin purification system for epigenomic profiling in Caenorhabditis elegans. Nucleic Acids Res (2009) 1.30
High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling. Nucleic Acids Res (2006) 1.28
Centromeres put epigenetics in the driver's seat. Trends Biochem Sci (2006) 1.28
Heat shock reduces stalled RNA polymerase II and nucleosome turnover genome-wide. Genes Dev (2011) 1.26
ISWI and CHD chromatin remodelers bind promoters but act in gene bodies. PLoS Genet (2013) 1.25
Histone variants: dynamic punctuation in transcription. Genes Dev (2014) 1.22
Centromeres convert but don't cross. PLoS Biol (2010) 1.22
Histone variants in pluripotency and disease. Development (2013) 1.21
Epigenomic profiling using microarrays. Biotechniques (2003) 1.21
Silencing of transposons in plant genomes: kick them when they're down. Genome Biol (2004) 1.15
Retention of induced mutations in a Drosophila reverse-genetic resource. Genetics (2008) 1.14
The nucleosomal barrier to promoter escape by RNA polymerase II is overcome by the chromatin remodeler Chd1. Elife (2014) 1.13
Intergenic locations of rice centromeric chromatin. PLoS Biol (2008) 1.13
Phylogeny as the basis for naming histones. Trends Genet (2013) 1.12
The CentO satellite confers translational and rotational phasing on cenH3 nucleosomes in rice centromeres. Proc Natl Acad Sci U S A (2013) 1.11
Tech.Sight. Phage display. Affinity selection from biological libraries. Science (2002) 1.11
Positive selection of Iris, a retroviral envelope-derived host gene in Drosophila melanogaster. PLoS Genet (2005) 1.09
Transcribing through the nucleosome. Trends Biochem Sci (2014) 1.07
Quantitative epigenetics. Nat Genet (2003) 1.07
Fly-TILL: reverse genetics using a living point mutation resource. Fly (Austin) (2008) 1.05
Labile H3.3+H2A.Z nucleosomes mark 'nucleosome-free regions'. Nat Genet (2009) 1.05
Epigenetic inheritance in Arabidopsis: selective silence. Curr Opin Genet Dev (2005) 1.03
Mot1 redistributes TBP from TATA-containing to TATA-less promoters. Mol Cell Biol (2013) 1.02
Histone variants and modifications in plant gene regulation. Curr Opin Plant Biol (2010) 1.02
Capturing the dynamic epigenome. Genome Biol (2010) 1.01
Surveying the epigenomic landscape, one base at a time. Genome Biol (2012) 0.99
Holocentromeres are dispersed point centromeres localized at transcription factor hotspots. Elife (2014) 0.98
High-throughput TILLING for Arabidopsis. Methods Mol Biol (2006) 0.94