Published in Hum Mutat on June 01, 2003
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics (2006) 21.54
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res (2009) 15.15
Ensembl 2014. Nucleic Acids Res (2013) 12.62
The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website. Br J Cancer (2004) 12.35
Ensembl 2013. Nucleic Acids Res (2012) 11.70
An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res (2006) 11.60
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet (2007) 10.92
Predicting the functional effect of amino acid substitutions and indels. PLoS One (2012) 8.61
Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet (2008) 7.36
Genetic variation in an individual human exome. PLoS Genet (2008) 6.68
Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res (2005) 5.62
COSMIC 2005. Br J Cancer (2006) 5.07
Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. Proc Natl Acad Sci U S A (2009) 4.58
Mechanisms for human genomic rearrangements. Pathogenetics (2008) 4.54
SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res (2012) 4.45
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet (2012) 4.45
Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res (2006) 4.00
Edgetic perturbation models of human inherited disorders. Mol Syst Biol (2009) 3.96
Pattern of sequence variation across 213 environmental response genes. Genome Res (2004) 3.93
Ensembl 2016. Nucleic Acids Res (2015) 3.61
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science (2015) 3.46
Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. Genome Res (2008) 3.33
Comparative Toxicogenomics Database: a knowledgebase and discovery tool for chemical-gene-disease networks. Nucleic Acids Res (2008) 3.19
Speeding disease gene discovery by sequence based candidate prioritization. BMC Bioinformatics (2005) 2.99
Computational tools for prioritizing candidate genes: boosting disease gene discovery. Nat Rev Genet (2012) 2.92
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
Single nucleotide polymorphism-based validation of exonic splicing enhancers. PLoS Biol (2004) 2.77
PolySearch: a web-based text mining system for extracting relationships between human diseases, genes, mutations, drugs and metabolites. Nucleic Acids Res (2008) 2.63
A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs. Am J Hum Genet (2009) 2.62
Detection of single nucleotide variations in expressed exons of the human genome using RNA-Seq. Nucleic Acids Res (2009) 2.61
Disease-associated mutations that alter the RNA structural ensemble. PLoS Genet (2010) 2.54
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet (2012) 2.34
Sequencing studies in human genetics: design and interpretation. Nat Rev Genet (2013) 2.27
Genetics and immunopathology of chronic granulomatous disease. Semin Immunopathol (2008) 2.22
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease. Hum Genet (2005) 2.10
RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database. BMC Genet (2005) 2.08
Colloquium paper: footprints of nonsentient design inside the human genome. Proc Natl Acad Sci U S A (2010) 2.08
Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes. Genome Biol (2004) 2.05
The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms. Proc Natl Acad Sci U S A (2006) 1.96
Detecting false-positive signals in exome sequencing. Hum Mutat (2012) 1.87
nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms. Nucleic Acids Res (2005) 1.87
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genet Med (2015) 1.84
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat (2009) 1.78
PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level. Nucleic Acids Res (2004) 1.74
Structure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's disease. Proc Natl Acad Sci U S A (2007) 1.73
Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes. Proc Natl Acad Sci U S A (2011) 1.64
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet (2013) 1.63
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet (2006) 1.63
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. J Cardiovasc Transl Res (2016) 1.61
FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease. Genome Biol (2008) 1.58
Isofagomine- and 2,5-anhydro-2,5-imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for Gaucher disease intervention. J Med Chem (2007) 1.58
Enhancer identification through comparative genomics. Semin Cell Dev Biol (2007) 1.56
A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview. Hum Genet (2006) 1.55
Cis-regulatory variations: a study of SNPs around genes showing cis-linkage in segregating mouse populations. BMC Genomics (2006) 1.53
Variant detection sensitivity and biases in whole genome and exome sequencing. BMC Bioinformatics (2014) 1.52
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis (2009) 1.50
Recommendations for locus-specific databases and their curation. Hum Mutat (2008) 1.49
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet (2004) 1.45
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Res (2006) 1.43
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase. FEBS J (2010) 1.42
Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival. BMC Med (2008) 1.40
Whole genome resequencing of black Angus and Holstein cattle for SNP and CNV discovery. BMC Genomics (2011) 1.40
Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management. Hered Cancer Clin Pract (2004) 1.38
Identification of rat genes by TWINSCAN gene prediction, RT-PCR, and direct sequencing. Genome Res (2004) 1.37
A combined functional annotation score for non-synonymous variants. Hum Hered (2012) 1.37
FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer. Genome Biol (2014) 1.36
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Mol Genet Metab (2007) 1.34
A microarray configuration to quantify expression levels and relative abundance of splice variants. Nucleic Acids Res (2005) 1.33
SNPit: a federated data integration system for the purpose of functional SNP annotation. Comput Methods Programs Biomed (2009) 1.33
Predicting the effects of frameshifting indels. Genome Biol (2012) 1.33
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci (2013) 1.32
Cardiac manifestations in the mouse model of mucopolysaccharidosis I. Mol Genet Metab (2005) 1.31
A macaque's-eye view of human insertions and deletions: differences in mechanisms. PLoS Comput Biol (2007) 1.31
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum Genet (2003) 1.31
Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology (2013) 1.28
Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays. Am J Hum Genet (2008) 1.27
Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties. Genome Res (2008) 1.25
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. Am J Hum Genet (2013) 1.23
The exchangeability of amino acids in proteins. Genetics (2005) 1.23
The YH database: the first Asian diploid genome database. Nucleic Acids Res (2009) 1.22
Collective judgment predicts disease-associated single nucleotide variants. BMC Genomics (2013) 1.20
Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins. PLoS Comput Biol (2008) 1.20
Large-scale mapping of branchpoints in human pre-mRNA transcripts in vivo. Nat Struct Mol Biol (2012) 1.20
UCbase & miRfunc: a database of ultraconserved sequences and microRNA function. Nucleic Acids Res (2008) 1.19
The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol Ther (2009) 1.18
Mutational pattern and frequency of induced nucleotide changes in mouse ENU mutagenesis. BMC Mol Biol (2007) 1.17
Tandem repeat copy-number variation in protein-coding regions of human genes. Genome Biol (2005) 1.16
Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics. Genome Res (2007) 1.16
Prediction of deleterious non-synonymous SNPs based on protein interaction network and hybrid properties. PLoS One (2010) 1.15
PhosSNP for systematic analysis of genetic polymorphisms that influence protein phosphorylation. Mol Cell Proteomics (2009) 1.15
CanProVar: a human cancer proteome variation database. Hum Mutat (2010) 1.15
Structural genomics analysis of alternative splicing and application to isoform structure modeling. Proc Natl Acad Sci U S A (2005) 1.15
Sequence and structure signatures of cancer mutation hotspots in protein kinases. PLoS One (2009) 1.14
A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med Genet (2014) 1.14
Chemical chaperone rescue of mutant human cystathionine beta-synthase. Mol Genet Metab (2007) 1.14
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. J Clin Neurol (2009) 1.13
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. Eur J Hum Genet (2005) 1.13
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet (2006) 15.14
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
The Human Gene Mutation Database: 2008 update. Genome Med (2009) 11.72
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet (2014) 6.69
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet (2008) 5.05
Correlation between genetic and geographic structure in Europe. Curr Biol (2008) 5.02
Gene conversion: mechanisms, evolution and human disease. Nat Rev Genet (2007) 4.62
The functional spectrum of low-frequency coding variation. Genome Biol (2011) 4.42
Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics (2009) 4.31
Sarcoidosis is associated with a truncating splice site mutation in BTNL2. Nat Genet (2005) 4.23
Insights into hominid evolution from the gorilla genome sequence. Nature (2012) 4.12
Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat Genet (2008) 3.99
On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants. Am J Hum Genet (2008) 3.95
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat (2012) 3.60
Genetic structure of Europeans: a view from the North-East. PLoS One (2009) 3.46
Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. Genome Res (2008) 3.33
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
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum Genomics (2009) 3.24
A comprehensive evaluation of SNP genotype imputation. Hum Genet (2008) 3.18
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet (2009) 2.93
Genetics of Crohn disease, an archetypal inflammatory barrier disease. Nat Rev Genet (2005) 2.82
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet (2007) 2.75
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat (2010) 2.67
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat (2005) 2.55
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Hum Mutat (2003) 2.55
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science (2008) 2.51
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques. Nat Biotechnol (2011) 2.37
The yak genome and adaptation to life at high altitude. Nat Genet (2012) 2.34
SNP-based analysis of genetic substructure in the German population. Hum Hered (2006) 2.21
Psychomotor developmental delay and epilepsy in an offspring of father-daughter incest: quantification of the causality probability. Int J Legal Med (2009) 2.20
Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci U S A (2004) 2.13
Predicting the functional consequences of cancer-associated amino acid substitutions. Bioinformatics (2013) 2.12
Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study. Lancet (2002) 2.12
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease. Hum Genet (2005) 2.10
Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes. Genome Biol (2004) 2.05
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum Mutat (2007) 2.03
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. Hum Mol Genet (2009) 2.03
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet (2005) 1.99
MHC class I alleles influence set-point viral load and survival time in simian immunodeficiency virus-infected rhesus monkeys. J Immunol (2002) 1.97
The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution. Curr Protoc Bioinformatics (2012) 1.97
Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol (2012) 1.89
A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals. Mech Ageing Dev (2011) 1.88
Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. Gastroenterology (2013) 1.83
In silico functional profiling of human disease-associated and polymorphic amino acid substitutions. Hum Mutat (2010) 1.81
Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Hum Mutat (2005) 1.74
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat (2003) 1.73
Patterns of linkage disequilibrium in the MHC region on human chromosome 6p. Hum Genet (2004) 1.73
Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprinting. Genome Res (2012) 1.73
Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol (2010) 1.72
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). Nat Genet (2010) 1.72
No association between microsomal triglyceride transfer protein (MTP) haplotype and longevity in humans. Proc Natl Acad Sci U S A (2005) 1.66
Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians. Hepatology (2010) 1.65
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair. Hum Mutat (2009) 1.64
A longitudinal analysis of reproductive skew in male rhesus macaques. Proc Biol Sci (2004) 1.64
Identifying Mendelian disease genes with the variant effect scoring tool. BMC Genomics (2013) 1.64
A meta-analysis of nonsense mutations causing human genetic disease. Hum Mutat (2008) 1.63
Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations. Eur J Hum Genet (2003) 1.60
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders. Eur J Hum Genet (2011) 1.57
Systematic association mapping identifies NELL1 as a novel IBD disease gene. PLoS One (2007) 1.57
DNA methylation analysis in nonalcoholic fatty liver disease suggests distinct disease-specific and remodeling signatures after bariatric surgery. Cell Metab (2013) 1.55
A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview. Hum Genet (2006) 1.55
A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway. J Clin Endocrinol Metab (2004) 1.55
Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain. Hum Mutat (2012) 1.55
Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet (2005) 1.54