Published in Hum Mutat on August 01, 2008
A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs. Am J Hum Genet (2009) 2.62
Regulation of nonsense-mediated mRNA decay: implications for physiology and disease. Biochim Biophys Acta (2013) 1.59
Gene inactivation and its implications for annotation in the era of personal genomics. Genes Dev (2011) 1.54
Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J Med Chem (2009) 1.53
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
Nonsense-mediated RNA decay regulation by cellular stress: implications for tumorigenesis. Mol Cancer Res (2010) 1.44
Global analyses of UPF1 binding and function reveal expanded scope of nonsense-mediated mRNA decay. Genome Res (2013) 1.39
Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties. Genome Res (2008) 1.25
Ataluren as an agent for therapeutic nonsense suppression. Annu Rev Med (2012) 1.24
Therapeutics based on stop codon readthrough. Annu Rev Genomics Hum Genet (2014) 1.23
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides. Hum Genomics (2010) 1.22
Expanding rare disease drug trials based on shared molecular etiology. Nat Biotechnol (2014) 1.12
Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression. PLoS One (2013) 1.11
Nonsense-mediated decay in genetic disease: friend or foe? Mutat Res Rev Mutat Res (2014) 1.10
Overexpression of the c-myc oncogene inhibits nonsense-mediated RNA decay in B lymphocytes. J Biol Chem (2011) 1.08
Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases. Wiley Interdiscip Rev RNA (2011) 1.08
Structural basis for stop codon recognition in eukaryotes. Nature (2015) 1.05
A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations. Mol Vis (2010) 1.03
Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine. Cell (2016) 1.01
Nonsense-mediated mRNA decay in humans at a glance. J Cell Sci (2016) 1.01
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Long-term nonsense suppression therapy moderates MPS I-H disease progression. Mol Genet Metab (2013) 0.91
Production of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients. Am J Hematol (2009) 0.90
Rules of UGA-N decoding by near-cognate tRNAs and analysis of readthrough on short uORFs in yeast. RNA (2016) 0.89
Translational readthrough potential of natural termination codons in eucaryotes--The impact of RNA sequence. RNA Biol (2015) 0.88
Molecular genetic diagnostic techniques in choroideremia. Mol Vis (2014) 0.88
An integrated approach to the interpretation of single amino acid polymorphisms within the framework of CATH and Gene3D. BMC Bioinformatics (2009) 0.87
A dynamic intron retention program in the mammalian megakaryocyte and erythrocyte lineages. Blood (2016) 0.82
Effects of premature termination codon polymorphisms in the Drosophila pseudoobscura subclade. J Mol Evol (2012) 0.80
Physiological and pathophysiological role of nonsense-mediated mRNA decay. Pflugers Arch (2016) 0.80
TP53 exon-6 truncating mutations produce separation of function isoforms with pro-tumorigenic functions. Elife (2016) 0.78
Novel small molecules potentiate premature termination codon readthrough by aminoglycosides. Nucleic Acids Res (2016) 0.78
Therapeutic suppression of premature termination codons: mechanisms and clinical considerations (review). Int J Mol Med (2014) 0.78
The somatic autosomal mutation matrix in cancer genomes. Hum Genet (2015) 0.76
Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease. Mol Syndromol (2012) 0.76
Allelic imbalance of somatic mutations in cancer genomes and transcriptomes. Sci Rep (2017) 0.75
Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases. Diseases (2016) 0.75
Proposing a mechanism of action for ataluren. Proc Natl Acad Sci U S A (2016) 0.75
Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia. RNA Biol (2016) 0.75
New inducible genetic method reveals critical roles of GABA in the control of feeding and metabolism. Proc Natl Acad Sci U S A (2016) 0.75
Association of ADORA1 rs2228079 and ADORA2A rs5751876 Polymorphisms with Gilles de la Tourette Syndrome in the Polish Population. PLoS One (2015) 0.75
Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations. Blood (2017) 0.75
Nonsense-mediated mRNA decay immunity can help identify human polycistronic transcripts. PLoS One (2014) 0.75
Gentamicin B1 is a minor gentamicin component with major nonsense mutation suppression activity. Proc Natl Acad Sci U S A (2017) 0.75
Toward postnatal reversal of ocular congenital malformations. J Clin Invest (2013) 0.75
De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. BMC Genomics (2017) 0.75
Conserved nonsense-prone CpG sites in apoptosis-regulatory genes: conditional stop signs on the road to cell death. Evol Bioinform Online (2013) 0.75
Fluorescence Amplification Method for Forward Genetic Discovery of Factors in Human mRNA Degradation. Mol Cell (2016) 0.75
Genetic Load of Loss-of-Function Polymorphic Variants in Great Apes. Genome Biol Evol (2016) 0.75
Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis. Mol Vis (2015) 0.75
Regulation of gene expression by translation factor eIF5A: Hypusine-modified eIF5A enhances nonsense-mediated mRNA decay in human cells. Translation (Austin) (2017) 0.75
Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia. Mol Ther Nucleic Acids (2017) 0.75
Gene structure and evolution of transthyretin in the order Chiroptera. Genetica (2015) 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
At least 1 in 20 16S rRNA sequence records currently held in public repositories is estimated to contain substantial anomalies. Appl Environ Microbiol (2005) 15.41
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
New screening software shows that most recent large 16S rRNA gene clone libraries contain chimeras. Appl Environ Microbiol (2006) 10.78
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
Gene conversion: mechanisms, evolution and human disease. Nat Rev Genet (2007) 4.62
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet (2009) 4.52
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
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
Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One (2010) 2.57
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
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
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
Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia. Arch Gen Psychiatry (2010) 2.11
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
Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol (2012) 1.89
Genome-wide association study of schizophrenia in a Japanese population. Biol Psychiatry (2010) 1.89
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
Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol (2010) 1.72
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 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
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
The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms. Curr Protoc Bioinformatics (2006) 1.37
Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum Mutat (2005) 1.37
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
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum Genet (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
Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes. Hum Mutat (2009) 1.28
Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology (2013) 1.28
Strong evidence for association between the dystrobrevin binding protein 1 gene (DTNBP1) and schizophrenia in 488 parent-offspring trios from Bulgaria. Biol Psychiatry (2004) 1.26
Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons. Hum Mutat (2007) 1.25
Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties. Genome Res (2008) 1.25
Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia. Proc Natl Acad Sci U S A (2006) 1.25
Molecular mechanisms of chromosomal rearrangement during primate evolution. Chromosome Res (2008) 1.22
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides. Hum Genomics (2010) 1.22
Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease. Genome Res (2011) 1.21
Support for neuregulin 1 as a susceptibility gene for bipolar disorder and schizophrenia. Biol Psychiatry (2008) 1.20
GWAS: heritability missing in action? Eur J Hum Genet (2010) 1.20
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. Hum Genomics (2011) 1.17
Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes. Hum Genomics (2010) 1.16
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat (2011) 1.14
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Hum Mutat (2010) 1.14
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. Hum Mutat (2004) 1.13
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Hum Mutat (2015) 1.12
Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes). Hum Mutat (2005) 1.10
Gain-of-glycosylation mutations. Curr Opin Genet Dev (2007) 1.08
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum Mutat (2014) 1.08
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Hum Mutat (2011) 1.07
Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature. Hum Mutat (2003) 1.07
Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene. Hum Genomics (2010) 1.06
Implication of a rare deletion at distal 16p11.2 in schizophrenia. JAMA Psychiatry (2013) 1.05
Transient hypermutability, chromothripsis and replication-based mechanisms in the generation of concurrent clustered mutations. Mutat Res (2012) 1.05
Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region. Nucleic Acids Res (2006) 1.03
The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis (2012) 1.02
DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels. Genome Biol (2013) 1.02
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? Hum Genomics (2012) 1.02
Structural divergence between the human and chimpanzee genomes. Hum Genet (2006) 1.01
Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X. Mod Pathol (2012) 1.01
Key challenges for next-generation pharmacogenomics: Science & Society series on Science and Drugs. EMBO Rep (2014) 0.99
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization. Hum Genet (2006) 0.99
MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures. Hum Genet (2013) 0.99
Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16. Genome Res (2005) 0.98
Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop project. Eur J Hum Genet (2009) 0.98
Ranking non-synonymous single nucleotide polymorphisms based on disease concepts. Hum Genomics (2014) 0.98
Genetic differences between five European populations. Hum Hered (2010) 0.98