Published in Nat Rev Genet on September 11, 2007
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Diversity of human copy number variation and multicopy genes. Science (2010) 8.97
Single-copy insertion of transgenes in Caenorhabditis elegans. Nat Genet (2008) 7.58
High-resolution mapping of meiotic crossovers and non-crossovers in yeast. Nature (2008) 6.10
The evolution of gene duplications: classifying and distinguishing between models. Nat Rev Genet (2010) 5.75
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell (2012) 4.03
Copy number variation and evolution in humans and chimpanzees. Genome Res (2008) 2.69
Role of Mre11 in chromosomal nonhomologous end joining in mammalian cells. Nat Struct Mol Biol (2009) 2.64
Adaptive evolution of UGT2B17 copy-number variation. Am J Hum Genet (2008) 2.58
Estimating the human mutation rate using autozygosity in a founder population. Nat Genet (2012) 2.44
Avian olfactory receptor gene repertoires: evidence for a well-developed sense of smell in birds? Proc Biol Sci (2008) 1.94
Understanding what determines the frequency and pattern of human germline mutations. Nat Rev Genet (2009) 1.77
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
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
Whole-genome duplication in teleost fishes and its evolutionary consequences. Mol Genet Genomics (2014) 1.47
Evolution of genetic and genomic features unique to the human lineage. Nat Rev Genet (2012) 1.44
A new theory of MHC evolution: beyond selection on the immune genes. Proc Biol Sci (2009) 1.36
The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility. Hum Reprod Update (2010) 1.24
Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease. Genome Res (2011) 1.21
SVA retrotransposons: Evolution and genetic instability. Semin Cancer Biol (2010) 1.20
Role for a somatically diversified lectin in resistance of an invertebrate to parasite infection. Proc Natl Acad Sci U S A (2010) 1.20
Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins. PLoS Comput Biol (2008) 1.20
The powdery mildew resistance gene REN1 co-segregates with an NBS-LRR gene cluster in two Central Asian grapevines. BMC Genet (2009) 1.17
Conceptual framework and pilot study to benchmark phylogenomic databases based on reference gene trees. Brief Bioinform (2011) 1.15
Adaptive functional divergence among triplicated alpha-globin genes in rodents. Genetics (2008) 1.14
Characterization of the bovine type I IFN locus: rearrangements, expansions, and novel subfamilies. BMC Genomics (2009) 1.13
Gene conversion and evolution of gene families: an overview. Genes (Basel) (2010) 1.11
Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function. PLoS Genet (2008) 1.11
Generation of antigenic diversity in Plasmodium falciparum by structured rearrangement of Var genes during mitosis. PLoS Genet (2014) 1.11
Fine-scale mergers of chloroplast and mitochondrial genes create functional, transcompartmentally chimeric mitochondrial genes. Proc Natl Acad Sci U S A (2009) 1.08
Minimal effect of ectopic gene conversion among recent duplicates in four mammalian genomes. Genetics (2009) 1.08
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat (2012) 1.07
Insights into the evolution of cotton diploids and polyploids from whole-genome re-sequencing. G3 (Bethesda) (2013) 1.07
Great majority of recombination events in Arabidopsis are gene conversion events. Proc Natl Acad Sci U S A (2012) 1.05
Gene conversion occurs within the mating-type locus of Cryptococcus neoformans during sexual reproduction. PLoS Genet (2012) 1.04
An insight into the salivary transcriptome and proteome of the soft tick and vector of epizootic bovine abortion, Ornithodoros coriaceus. J Proteomics (2008) 1.04
Gene conversion and end-joining-repair double-strand breaks in the Caenorhabditis elegans germline. Genetics (2008) 1.03
Revertant mosaicism in skin: natural gene therapy. Trends Mol Med (2010) 1.03
Genomics and genetics of gonadotropin beta-subunit genes: Unique FSHB and duplicated LHB/CGB loci. Mol Cell Endocrinol (2010) 1.01
Preservation of a pseudogene by gene conversion and diversifying selection. Genetics (2008) 1.01
High-throughput 454 resequencing for allele discovery and recombination mapping in Plasmodium falciparum. BMC Genomics (2011) 1.00
Evolution of duplicated beta-globin genes and the structural basis of hemoglobin isoform differentiation in Mus. Mol Biol Evol (2009) 1.00
The natural history of class I primate alcohol dehydrogenases includes gene duplication, gene loss, and gene conversion. PLoS One (2012) 0.99
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation. Hum Genet (2008) 0.98
A model-based analysis of GC-biased gene conversion in the human and chimpanzee genomes. PLoS Genet (2013) 0.97
X-linked cone dystrophy caused by mutation of the red and green cone opsins. Am J Hum Genet (2010) 0.96
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions. Nat Methods (2013) 0.96
The power of the methods for detecting interlocus gene conversion. Genetics (2009) 0.95
Deep genome-wide measurement of meiotic gene conversion using tetrad analysis in Arabidopsis thaliana. PLoS Genet (2012) 0.95
Neutral and non-neutral evolution of duplicated genes with gene conversion. Genes (Basel) (2011) 0.95
Biased gene conversion skews allele frequencies in human populations, increasing the disease burden of recessive alleles. Am J Hum Genet (2014) 0.95
Hard selective sweep and ectopic gene conversion in a gene cluster affording environmental adaptation. PLoS Genet (2013) 0.94
Deleterious mutations and selection for sex in finite diploid populations. Genetics (2010) 0.93
Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants. Ann Hematol (2008) 0.93
The Rate and Tract Length of Gene Conversion between Duplicated Genes. Genes (Basel) (2011) 0.93
Recombination dynamics of a human Y-chromosomal palindrome: rapid GC-biased gene conversion, multi-kilobase conversion tracts, and rare inversions. PLoS Genet (2013) 0.93
Evidence for maintenance of sex determinants but not of sexual stages in red yeasts, a group of early diverged basidiomycetes. BMC Evol Biol (2011) 0.92
AKT1/BRCA1 in the control of homologous recombination and genetic stability: the missing link between hereditary and sporadic breast cancers. Oncotarget (2010) 0.91
Tracing back the nascence of a new sex-determination pathway to the ancestor of bees and ants. Nat Commun (2012) 0.91
Non-allelic gene conversion enables rapid evolutionary change at multiple regulatory sites encoded by transposable elements. Elife (2015) 0.91
WRKY gene family evolution in Arabidopsis thaliana. Genetica (2011) 0.91
Frequent gene conversion events between the X and Y homologous chromosomal regions in primates. BMC Evol Biol (2010) 0.90
Nonallelic gene conversion in the genus Drosophila. Genetics (2010) 0.90
High divergence in primate-specific duplicated regions: human and chimpanzee chorionic gonadotropin beta genes. BMC Evol Biol (2008) 0.89
Recombination in the human Pseudoautosomal region PAR1. PLoS Genet (2014) 0.89
Gene conversion in angiosperm genomes with an emphasis on genes duplicated by polyploidization. Genes (Basel) (2011) 0.89
NextGen sequencing reveals short double crossovers contribute disproportionately to genetic diversity in Toxoplasma gondii. BMC Genomics (2014) 0.89
The Evolutionary Fates of a Large Segmental Duplication in Mouse. Genetics (2016) 0.88
A recombination hotspot leads to sequence variability within a novel gene (AK005651) and contributes to type 1 diabetes susceptibility. Genome Res (2010) 0.88
Movement of DNA sequence recognition domains between non-orthologous proteins. Nucleic Acids Res (2012) 0.87
The type I interferons: Basic concepts and clinical relevance in immune-mediated inflammatory diseases. Gene (2015) 0.87
Evolution of siglec-11 and siglec-16 genes in hominins. Mol Biol Evol (2012) 0.86
Gene conversion among paralogs results in moderate false detection of positive selection using likelihood methods. J Mol Evol (2009) 0.86
Duplication, concerted evolution and purifying selection drive the evolution of mosquito vitellogenin genes. BMC Evol Biol (2010) 0.86
CAGE: Combinatorial Analysis of Gene-cluster Evolution. J Comput Biol (2010) 0.86
Genome-wide linkage-disequilibrium profiles from single individuals. Genetics (2014) 0.86
Gene conversion in human genetic disease. Genes (Basel) (2010) 0.85
Insight into the molecular evolution of non-specific lipid transfer proteins via comparative analysis between rice and sorghum. DNA Res (2012) 0.85
Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet (2015) 0.85
Is homologous recombination really an error-free process? Front Genet (2014) 0.85
Open chromatin reveals the functional maize genome. Proc Natl Acad Sci U S A (2016) 0.84
Gene duplication and ectopic gene conversion in Drosophila. Genes (Basel) (2011) 0.84
Roles for mismatch repair family proteins in promoting meiotic crossing over. DNA Repair (Amst) (2015) 0.84
An effective method for detecting gene conversion events in whole genomes. J Comput Biol (2010) 0.84
Signals of historical interlocus gene conversion in human segmental duplications. PLoS One (2013) 0.84
Concerted evolution in the ribosomal RNA cistron. PLoS One (2013) 0.84
Exploiting genomic knowledge in optimising molecular breeding programmes: algorithms from evolutionary computing. PLoS One (2012) 0.84
Genetic diversification by somatic gene conversion. Genes (Basel) (2011) 0.84
Causes and consequences of crossing-over evidenced via a high-resolution recombinational landscape of the honey bee. Genome Biol (2015) 0.84
Extensive and biased intergenomic nonreciprocal DNA exchanges shaped a nascent polyploid genome, Gossypium (cotton). Genetics (2014) 0.84
Structure, function, and genetics of lipoprotein (a). J Lipid Res (2016) 0.83
Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis. Hum Mutat (2015) 0.83
Conversion events in gene clusters. BMC Evol Biol (2011) 0.83
Mechanisms for Structural Variation in the Human Genome. Curr Genet Med Rep (2013) 0.83
Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event. Hum Mutat (2010) 0.83
Large-scale inference of the point mutational spectrum in human segmental duplications. BMC Genomics (2009) 0.83
Assessment of anti-recombination and double-strand break-induced gene conversion in human cells by a chromosomal reporter. J Biol Chem (2012) 0.83
Prevalence of multinucleotide replacements in evolution of primates and Drosophila. Mol Biol Evol (2013) 0.83
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
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
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
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
Insights into hominid evolution from the gorilla genome sequence. Nature (2012) 4.12
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat (2002) 3.65
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat (2012) 3.60
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
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet (2013) 2.91
Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol (2013) 2.85
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
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nat Genet (2011) 2.51
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet (2010) 2.50
Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nat Genet (2006) 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
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat (2007) 2.22
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
Variants in CPA1 are strongly associated with early onset chronic pancreatitis. Nat Genet (2013) 2.10
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
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet (2005) 1.99
The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution. Curr Protoc Bioinformatics (2012) 1.97
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. Hum Genet (2008) 1.94
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nat Genet (2006) 1.90
Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol (2012) 1.89
In silico functional profiling of human disease-associated and polymorphic amino acid substitutions. Hum Mutat (2010) 1.81
Comparative analysis of genome sequences covering the seven cronobacter species. PLoS One (2012) 1.79
PhenCode: connecting ENCODE data with mutations and phenotype. Hum Mutat (2007) 1.75
European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros (2009) 1.75
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
Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol (2010) 1.72
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat (2009) 1.71
Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype. Blood (2008) 1.66
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
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
ABL1 fusion genes in hematological malignancies: a review. Eur J Haematol (2011) 1.61
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
Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat (2004) 1.54
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
Chronic pancreatitis: genetics and pathogenesis. Annu Rev Genomics Hum Genet (2009) 1.46
Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect. Blood Cells Mol Dis (2003) 1.45
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mutat (2012) 1.45
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
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Res (2006) 1.43
CRAVAT: cancer-related analysis of variants toolkit. Bioinformatics (2013) 1.43
Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database. Hum Mutat (2007) 1.41
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
High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clin Cancer Res (2008) 1.34
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat (2010) 1.33
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene. Eur J Hum Genet (2007) 1.33
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
Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet (2005) 1.32
Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis. Clin Gastroenterol Hepatol (2007) 1.32
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum Genet (2003) 1.31
Evolution of trypsinogen activation peptides. Mol Biol Evol (2003) 1.31
Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Hum Mutat (2003) 1.30
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med (2014) 1.30