Published in Hum Mutat on January 01, 2003
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
Global and unbiased detection of splice junctions from RNA-seq data. Genome Biol (2010) 2.32
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet (2006) 2.23
Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes. Genome Res (2004) 1.73
Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol (2011) 1.57
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat (2011) 1.53
Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project. Nucleic Acids Res (2011) 1.43
Sequence context affects the rate of short insertions and deletions in flies and primates. Genome Biol (2008) 1.14
Insertions and deletions are male biased too: a whole-genome analysis in rodents. Genome Res (2004) 1.05
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. Neurogenetics (2009) 1.02
Complexity: an internet resource for analysis of DNA sequence complexity. Nucleic Acids Res (2004) 0.97
Ride the wavelet: A multiscale analysis of genomic contexts flanking small insertions and deletions. Genome Res (2009) 0.95
Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden. Neurogenetics (2010) 0.91
Mutation spectrum of Drosophila CNVs revealed by breakpoint sequencing. Genome Biol (2012) 0.88
Genetic analysis of West Nile virus isolates from an outbreak in Idaho, United States, 2006-2007. Int J Environ Res Public Health (2013) 0.87
A novel application of pattern recognition for accurate SNP and indel discovery from high-throughput data: targeted resequencing of the glucocorticoid receptor co-chaperone FKBP5 in a Caucasian population. Mol Genet Metab (2011) 0.83
Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits. BMC Med Genet (2010) 0.80
Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli. Nucleic Acids Res (2006) 0.80
Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot. J Clin Immunol (2008) 0.80
Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates. Hum Mol Genet (2008) 0.79
Sequence features of HLA-DRB1 locus define putative basis for gene conversion and point mutations. BMC Genomics (2008) 0.79
Evolutionary hierarchies of conserved blocks in 5'-noncoding sequences of dicot rbcS genes. BMC Evol Biol (2007) 0.77
A generalized mechanistic codon model. Mol Biol Evol (2014) 0.76
Recent computational approaches to understand gene regulation: mining gene regulation in silico. Curr Genomics (2007) 0.76
The evolution of the human genome. Curr Opin Genet Dev (2015) 0.76
The -2549 insertion/deletion polymorphism in the promoter region of the VEGFA gene in couples with idiopathic recurrent spontaneous abortion. J Assist Reprod Genet (2015) 0.75
A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy. Mol Ther Nucleic Acids (2016) 0.75
DNA mutation motifs in the genes associated with inherited diseases. PLoS One (2017) 0.75
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
Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat (2003) 12.88
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
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
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). Nat Genet (2010) 1.72
Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol (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
Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat (2004) 1.54
Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis. Nat Genet (2008) 1.54
Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus. Hepatology (2013) 1.53
Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord (2002) 1.51
Loss of exon identity is a common mechanism of human inherited disease. Genome Res (2011) 1.44
Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet (2013) 1.43
CRAVAT: cancer-related analysis of variants toolkit. Bioinformatics (2013) 1.43
Complex gene rearrangements caused by serial replication slippage. Hum Mutat (2005) 1.41
Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution. BMC Evol Biol (2009) 1.40
Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region. Hum Mutat (2003) 1.39
Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum Mutat (2005) 1.37
Entropy-based SNP selection for genetic association studies. Hum Genet (2003) 1.36
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome. Hum Genet (2006) 1.33
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet (2006) 1.33
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. Genome Biol (2014) 1.32