Published in Proc Natl Acad Sci U S A on January 04, 2010
Cancer etiology. Variation in cancer risk among tissues can be explained by the number of stem cell divisions. Science (2015) 21.42
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Rate of de novo mutations and the importance of father's age to disease risk. Nature (2012) 11.92
Variation in genome-wide mutation rates within and between human families. Nat Genet (2011) 8.84
A de novo paradigm for mental retardation. Nat Genet (2010) 8.57
Rare and common variants: twenty arguments. Nat Rev Genet (2012) 6.67
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
The causes and consequences of genetic heterogeneity in cancer evolution. Nature (2013) 5.91
Recent explosive human population growth has resulted in an excess of rare genetic variants. Science (2012) 5.58
Evolution of the mutation rate. Trends Genet (2010) 4.83
Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat Genet (2011) 4.67
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun (2010) 4.39
Insights into hominid evolution from the gorilla genome sequence. Nature (2012) 4.12
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell (2012) 4.03
De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81
Genomics, intellectual disability, and autism. N Engl J Med (2012) 3.74
A survey of tools for variant analysis of next-generation genome sequencing data. Brief Bioinform (2013) 3.60
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet (2012) 3.58
Revising the human mutation rate: implications for understanding human evolution. Nat Rev Genet (2012) 3.56
Noisy splicing drives mRNA isoform diversity in human cells. PLoS Genet (2010) 3.19
Evidence that mutation is universally biased towards AT in bacteria. PLoS Genet (2010) 2.95
Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron (2012) 2.84
Low incidence of DNA sequence variation in human induced pluripotent stem cells generated by nonintegrating plasmid expression. Cell Stem Cell (2012) 2.61
Rate and molecular spectrum of spontaneous mutations in the bacterium Escherichia coli as determined by whole-genome sequencing. Proc Natl Acad Sci U S A (2012) 2.47
Tumor cells can follow distinct evolutionary paths to become resistant to epidermal growth factor receptor inhibition. Nat Med (2016) 2.46
Estimating the human mutation rate using autozygosity in a founder population. Nat Genet (2012) 2.44
Evidence of selection upon genomic GC-content in bacteria. PLoS Genet (2010) 2.42
Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy. Proc Natl Acad Sci U S A (2011) 2.41
A direct characterization of human mutation based on microsatellites. Nat Genet (2012) 2.38
Drift-barrier hypothesis and mutation-rate evolution. Proc Natl Acad Sci U S A (2012) 2.08
Rates and fitness consequences of new mutations in humans. Genetics (2012) 2.01
Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus. PLoS One (2010) 1.93
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. Am J Hum Genet (2012) 1.91
Precise estimates of mutation rate and spectrum in yeast. Proc Natl Acad Sci U S A (2014) 1.81
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet (2012) 1.78
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet (2011) 1.70
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
The role of replicates for error mitigation in next-generation sequencing. Nat Rev Genet (2013) 1.66
DeNovoGear: de novo indel and point mutation discovery and phasing. Nat Methods (2013) 1.65
Genome-wide patterns and properties of de novo mutations in humans. Nat Genet (2015) 1.65
Properties and rates of germline mutations in humans. Trends Genet (2013) 1.58
Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B. PLoS Genet (2012) 1.55
Replicative mechanisms for CNV formation are error prone. Nat Genet (2013) 1.54
Rates and genomic consequences of spontaneous mutational events in Drosophila melanogaster. Genetics (2013) 1.48
Characteristics of neutral and deleterious protein-coding variation among individuals and populations. Am J Hum Genet (2014) 1.43
Relaxed Observance of Traditional Marriage Rules Allows Social Connectivity without Loss of Genetic Diversity. Mol Biol Evol (2015) 1.42
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. Transl Psychiatry (2011) 1.40
Ultra-precise detection of mutations by droplet-based amplification of circularized DNA. BMC Genomics (2016) 1.40
DNA replication timing and selection shape the landscape of nucleotide variation in cancer genomes. Nat Commun (2012) 1.40
Mutation induction by inhaled radon progeny modeled at the tissue level. Radiat Environ Biophys (2011) 1.39
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Neurogenetics (2013) 1.32
The genome as a life-history character: why rate of molecular evolution varies between mammal species. Philos Trans R Soc Lond B Biol Sci (2011) 1.24
Did genetic drift drive increases in genome complexity? PLoS Genet (2010) 1.20
Cancer in light of experimental evolution. Curr Biol (2012) 1.17
Extraordinary genome stability in the ciliate Paramecium tetraurelia. Proc Natl Acad Sci U S A (2012) 1.17
Population growth inflates the per-individual number of deleterious mutations and reduces their mean effect. Genetics (2013) 1.17
The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nat Commun (2015) 1.15
Evidence for elevated mutation rates in low-quality genotypes. Proc Natl Acad Sci U S A (2012) 1.13
Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios. Nat Commun (2015) 1.09
A recurrent regulatory change underlying altered expression and Wnt response of the stickleback armor plates gene EDA. Elife (2015) 1.07
Characteristics of de novo structural changes in the human genome. Genome Res (2015) 1.04
The influence of genomic context on mutation patterns in the human genome inferred from rare variants. Genome Res (2013) 1.04
GC-Content evolution in bacterial genomes: the biased gene conversion hypothesis expands. PLoS Genet (2015) 1.02
Mechanism and preclinical prevention of increased breast cancer risk caused by pregnancy. Elife (2013) 1.02
Genome-wide analysis of mutations in mutant lineages selected following fast-neutron irradiation mutagenesis of Arabidopsis thaliana. Genome Res (2012) 1.01
Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. J Med Genet (2012) 0.99
Acute myeloid leukaemia: a paradigm for the clonal evolution of cancer? Dis Model Mech (2014) 0.98
Germline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator mice. Genome Res (2015) 0.96
DNA methylation, its mediators and genome integrity. Int J Biol Sci (2015) 0.96
Mutation and Human Exceptionalism: Our Future Genetic Load. Genetics (2016) 0.95
De novo mutation in schizophrenia. Schizophr Bull (2012) 0.95
GC-biased gene conversion in yeast is specifically associated with crossovers: molecular mechanisms and evolutionary significance. Mol Biol Evol (2013) 0.95
Limits and patterns of cytomegalovirus genomic diversity in humans. Proc Natl Acad Sci U S A (2015) 0.94
The evolution of multimeric protein assemblages. Mol Biol Evol (2011) 0.91
Interpreting de novo Variation in Human Disease Using denovolyzeR. Curr Protoc Hum Genet (2015) 0.90
Longer time scale for human evolution. Proc Natl Acad Sci U S A (2012) 0.90
Linking great apes genome evolution across time scales using polymorphism-aware phylogenetic models. Mol Biol Evol (2013) 0.88
New insights into the generation and role of de novo mutations in health and disease. Genome Biol (2016) 0.88
Whole genome sequencing of 35 individuals provides insights into the genetic architecture of Korean population. BMC Bioinformatics (2014) 0.88
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations. Am J Hum Genet (2013) 0.88
The Spontaneous Mutation Rate in the Fission Yeast Schizosaccharomyces pombe. Genetics (2015) 0.88
Life history effects on the molecular clock of autosomes and sex chromosomes. Proc Natl Acad Sci U S A (2016) 0.88
Mutation rate distribution inferred from coincident SNPs and coincident substitutions. Genome Biol Evol (2011) 0.88
The Rate and Molecular Spectrum of Spontaneous Mutations in the GC-Rich Multichromosome Genome of Burkholderia cenocepacia. Genetics (2015) 0.87
Background Mutational Features of the Radiation-Resistant Bacterium Deinococcus radiodurans. Mol Biol Evol (2015) 0.87
Genetic drift, selection and the evolution of the mutation rate. Nat Rev Genet (2016) 0.87
Statistical inference on the mechanisms of genome evolution. PLoS Genet (2011) 0.85
Opposing forces of A/T-biased mutations and G/C-biased gene conversions shape the genome of the nematode Pristionchus pacificus. Genetics (2014) 0.85
Inference of Candidate Germline Mutator Loci in Humans from Genome-Wide Haplotype Data. PLoS Genet (2017) 0.85
Early and multiple origins of metastatic lineages within primary tumors. Proc Natl Acad Sci U S A (2016) 0.84
The genome of the chicken DT40 bursal lymphoma cell line. G3 (Bethesda) (2014) 0.84
Phylogenomic analysis of the uracil-DNA glycosylase superfamily. Mol Biol Evol (2010) 0.84
De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention. Genome Med (2012) 0.83
Somatic mosaicism: on the road to cancer. Nat Rev Cancer (2015) 0.83
SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism. Pediatr Neurol (2013) 0.83
Toward a Deeper Understanding of the Genetics of Bipolar Disorder. Front Psychiatry (2015) 0.83
Mutation rate, spectrum, topology, and context-dependency in the DNA mismatch repair-deficient Pseudomonas fluorescens ATCC948. Genome Biol Evol (2014) 0.83
Gene correction in patient-specific iPSCs for therapy development and disease modeling. Hum Genet (2016) 0.83
Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science (2008) 36.02
Our load of mutations. Am J Hum Genet (1950) 24.01
DNA methylation profiling of human chromosomes 6, 20 and 22. Nat Genet (2006) 18.08
A constant rate of spontaneous mutation in DNA-based microbes. Proc Natl Acad Sci U S A (1991) 11.66
The selection-mutation-drift theory of synonymous codon usage. Genetics (1991) 8.59
Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases. Hum Mutat (2003) 8.35
The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet (2000) 6.44
A genome-wide view of the spectrum of spontaneous mutations in yeast. Proc Natl Acad Sci U S A (2008) 5.90
Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. Curr Biol (2009) 5.70
The rate and molecular spectrum of spontaneous mutations in Arabidopsis thaliana. Science (2010) 5.19
High mutation rate and predominance of insertions in the Caenorhabditis elegans nuclear genome. Nature (2004) 4.79
Human diallelic insertion/deletion polymorphisms. Am J Hum Genet (2002) 4.44
Direct estimation of per nucleotide and genomic deleterious mutation rates in Drosophila. Nature (2007) 4.27
The origins of eukaryotic gene structure. Mol Biol Evol (2005) 4.11
The high spontaneous mutation rate: is it a health risk? Proc Natl Acad Sci U S A (1997) 3.85
Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. Hum Mol Genet (2004) 3.73
Multistage carcinogenesis and the incidence of colorectal cancer. Proc Natl Acad Sci U S A (2002) 3.64
The distribution of fitness effects of new deleterious amino acid mutations in humans. Genetics (2006) 3.63
Analysis of the genome sequences of three Drosophila melanogaster spontaneous mutation accumulation lines. Genome Res (2009) 3.47
Contamination of the genome by very slightly deleterious mutations: why have we not died 100 times over? J Theor Biol (1995) 3.22
The impact of recombination on nucleotide substitutions in the human genome. PLoS Genet (2008) 3.16
Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human. Environ Mol Mutagen (1995) 2.76
A genome-wide view of Caenorhabditis elegans base-substitution mutation processes. Proc Natl Acad Sci U S A (2009) 2.69
The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Genet (1990) 2.59
A quantitative measurement of the human somatic mutation rate. Cancer Res (2005) 2.55
Strong male-driven evolution of DNA sequences in humans and apes. Nature (2002) 2.53
How much do we know about spontaneous human mutation rates? Environ Mol Mutagen (1993) 2.34
Distribution of the strength of selection against amino acid replacements in human proteins. Hum Mol Genet (2005) 2.34
Models of nearly neutral mutations with particular implications for nonrandom usage of synonymous codons. J Mol Evol (1987) 2.27
Cancer genome sequencing: a review. Hum Mol Genet (2009) 2.15
Selection in favor of nucleotides G and C diversifies evolution rates and levels of polymorphism at mammalian synonymous sites. J Theor Biol (2005) 1.88
Cytosine methylation and CpG, TpG (CpA) and TpA frequencies. Gene (2004) 1.78
Distributions of selectively constrained sites and deleterious mutation rates in the hominid and murid genomes. Mol Biol Evol (2010) 1.75
Mutation rate at the hprt locus in human cancer cell lines with specific mismatch repair-gene defects. Carcinogenesis (1997) 1.75
Functional overlap in mismatch repair by human MSH3 and MSH6. Genetics (1998) 1.70
The cellular, developmental and population-genetic determinants of mutation-rate evolution. Genetics (2008) 1.69
Heterogeneous genomic molecular clocks in primates. PLoS Genet (2006) 1.55
Reduced purifying selection prevails over positive selection in human copy number variant evolution. Genome Res (2008) 1.54
Model for the incidence of embryonal cancers: application to retinoblastoma. Proc Natl Acad Sci U S A (1978) 1.51
Mutation frequency declines during spermatogenesis in young mice but increases in old mice. Proc Natl Acad Sci U S A (1998) 1.49
Rapid accumulation of mutations during seed-to-seed propagation of mismatch-repair-defective Arabidopsis. Genes Dev (2004) 1.33
Molecular analysis of mutations in mutator colorectal carcinoma cell lines. Hum Mol Genet (1995) 1.32
The use of shuttle vectors for mutation analysis in transgenic mice and rats. Mutat Res (1994) 1.27
The measurement of historical trends in fetal mortality in England and Wales. Popul Stud (Camb) (2005) 1.25
The spectra of point mutations in vertebrate genomes. Bioessays (2009) 1.02
Spontaneous mutation rate in retinoblastoma. J Clin Pathol (1990) 1.01
Tissue-specific time courses of spontaneous mutation frequency and deviations in mutation pattern are observed in middle to late adulthood in Big Blue mice. Environ Mol Mutagen (2005) 1.01
Comparison of spontaneous hprt mutation spectra at the nucleotide sequence level in the endogenous hprt gene and five other genomic positions. Mutat Res (1996) 0.97
Somatic mutation rate of the APC gene. Jpn J Clin Oncol (2001) 0.96
Retinoblastoma mutation rate in New Zealand and support for the two-hit model. Hum Genet (1983) 0.93
The in vivo rate of somatic adenomatous polyposis coli mutation. Am J Pathol (2008) 0.88
Retinoblastoma: a model for deriving the mutation rate without using any estimate of the size of the population at risk. Mutat Res (1995) 0.87
A genome-wide view of the spectrum of spontaneous mutations in yeast. Proc Natl Acad Sci U S A (2008) 5.90
The frailty of adaptive hypotheses for the origins of organismal complexity. Proc Natl Acad Sci U S A (2007) 4.96
Evolution of the mutation rate. Trends Genet (2010) 4.83
Mutation pressure and the evolution of organelle genomic architecture. Science (2006) 3.03
Scaling expectations for the time to establishment of complex adaptations. Proc Natl Acad Sci U S A (2010) 1.19
Evolutionary layering and the limits to cellular perfection. Proc Natl Acad Sci U S A (2012) 1.04
Evolutionary diversification of the multimeric states of proteins. Proc Natl Acad Sci U S A (2013) 0.95