Published in Am J Hum Genet on June 23, 2011
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) (2012) 20.08
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med (2013) 3.90
A public resource facilitating clinical use of genomes. Proc Natl Acad Sci U S A (2012) 3.72
wANNOVAR: annotating genetic variants for personal genomes via the web. J Med Genet (2012) 2.43
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet (2013) 2.10
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. Am J Hum Genet (2014) 1.92
Personalized medicine: Bring clinical standards to human-genetics research. Nature (2012) 1.56
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications. Discov Med (2011) 1.52
VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix. Genet Epidemiol (2013) 1.42
Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Med (2014) 1.30
Alzheimer's disease: analyzing the missing heritability. PLoS One (2013) 1.28
Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-α-acetylation features. Mol Cell Proteomics (2012) 1.23
Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress. Genome Med (2012) 1.18
N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. Proc Natl Acad Sci U S A (2012) 1.14
Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups. Ann Rheum Dis (2012) 1.07
The human N-alpha-acetyltransferase 40 (hNaa40p/hNatD) is conserved from yeast and N-terminally acetylates histones H2A and H4. PLoS One (2011) 1.02
Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. Hum Mol Genet (2014) 1.02
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet (2014) 1.01
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement. Genome Med (2013) 1.00
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. Eur J Hum Genet (2014) 0.99
Two N-terminal acetyltransferases antagonistically regulate the stability of a nod-like receptor in Arabidopsis. Plant Cell (2015) 0.98
Mutation of an Arabidopsis NatB N-alpha-terminal acetylation complex component causes pleiotropic developmental defects. PLoS One (2013) 0.97
The need for clinical decision support integrated with the electronic health record for the clinical application of whole genome sequencing information. J Pers Med (2013) 0.97
Loss of amino-terminal acetylation suppresses a prion phenotype by modulating global protein folding. Nat Commun (2014) 0.95
Downregulation of N-terminal acetylation triggers ABA-mediated drought responses in Arabidopsis. Nat Commun (2015) 0.94
Clinical analysis of genome next-generation sequencing data using the Omicia platform. Expert Rev Mol Diagn (2013) 0.93
Exome analysis of a family with pleiotropic congenital heart disease. Circ Cardiovasc Genet (2012) 0.92
Clinical implications of human population differences in genome-wide rates of functional genotypes. Front Genet (2012) 0.90
A Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutant. Mol Cell Proteomics (2014) 0.89
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment. Sci Rep (2015) 0.87
Molecular identification and functional characterization of the first Nα-acetyltransferase in plastids by global acetylome profiling. Proteomics (2015) 0.87
Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. Circ Cardiovasc Genet (2013) 0.87
The biological functions of Naa10 - From amino-terminal acetylation to human disease. Gene (2015) 0.87
Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing. J Biomed Biotechnol (2012) 0.86
The N-terminal acetyltransferase Naa10 is essential for zebrafish development. Biosci Rep (2015) 0.85
Functional genomics: The changes that count. Nature (2012) 0.85
Improving the Sequence Ontology terminology for genomic variant annotation. J Biomed Semantics (2015) 0.84
Businesses ready whole-genome analysis services for researchers. Nat Med (2011) 0.84
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nat Genet (2017) 0.84
A proposed clinical decision support architecture capable of supporting whole genome sequence information. J Pers Med (2014) 0.83
New roles for old modifications: emerging roles of N-terminal post-translational modifications in development and disease. Protein Sci (2014) 0.83
Computational approaches to interpreting genomic sequence variation. Genome Med (2014) 0.82
N-terminal modifications of cellular proteins: The enzymes involved, their substrate specificities and biological effects. Proteomics (2015) 0.82
microRNA-342-5p and miR-608 inhibit colon cancer tumorigenesis by targeting NAA10. Oncotarget (2016) 0.81
Return of genetic results in the familial dilated cardiomyopathy research project. J Genet Couns (2012) 0.81
Secrets of the human genome disclosed. Nature (2011) 0.81
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. PLoS One (2015) 0.80
The DAF-16 FOXO transcription factor regulates natc-1 to modulate stress resistance in Caenorhabditis elegans, linking insulin/IGF-1 signaling to protein N-terminal acetylation. PLoS Genet (2014) 0.80
Protein N-terminal acetyltransferases act as N-terminal propionyltransferases in vitro and in vivo. Mol Cell Proteomics (2012) 0.79
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency. Hum Mutat (2016) 0.78
Absence of N-terminal acetyltransferase diversification during evolution of eukaryotic organisms. Sci Rep (2016) 0.78
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline. BMC Med Genomics (2014) 0.77
Crystal Structure of the Golgi-Associated Human Nα-Acetyltransferase 60 Reveals the Molecular Determinants for Substrate-Specific Acetylation. Structure (2016) 0.77
Naa10 in development and disease. Oncotarget (2015) 0.77
N-Terminal Acetylation-Targeted N-End Rule Proteolytic System: The Ac/N-End Rule Pathway. Mol Cells (2016) 0.76
Microscopy-based Saccharomyces cerevisiae complementation model reveals functional conservation and redundancy of N-terminal acetyltransferases. Sci Rep (2016) 0.76
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. Am J Med Genet A (2015) 0.76
New links between protein N-terminal acetylation, dauer diapause, and the insulin/IGF-1 signaling pathway in Caenorhabditis elegans. Worm (2015) 0.76
Molecular determinants of the N-terminal acetyltransferase Naa60 anchoring to the Golgi membrane. J Biol Chem (2017) 0.75
Unc-5 homolog B (UNC5B) is one of the key downstream targets of N-α-Acetyltransferase 10 (Naa10). Sci Rep (2016) 0.75
Proteomic and genomic characterization of a yeast model for Ogden syndrome. Yeast (2016) 0.75
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med (2017) 0.75
Protein acetylation and spermatogenesis. Reprod Syst Sex Disord (2013) 0.75
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine. BMC Med Genomics (2017) 0.75
N-terminal acetylation promotes synaptonemal complex assembly in C. elegans. Genes Dev (2016) 0.75
Prioritizing genes for X-linked diseases using population exome data. Hum Mol Genet (2014) 0.75
Human Naa50 Protein Displays Broad Substrate Specificity for Amino-terminal Acetylation: DETAILED STRUCTURAL AND BIOCHEMICAL ANALYSIS USING TETRAPEPTIDE LIBRARY. J Biol Chem (2016) 0.75
KBG syndrome involving a single-nucleotide duplication in ANKRD11. Cold Spring Harb Mol Case Stud (2016) 0.75
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res (2003) 52.26
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Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
A high-resolution recombination map of the human genome. Nat Genet (2002) 28.66
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45
The UCSC Genome Browser database: update 2011. Nucleic Acids Res (2010) 16.24
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Database resources of the National Center for Biotechnology Information. Nucleic Acids Res (2009) 12.51
Conformational parameters for amino acids in helical, beta-sheet, and random coil regions calculated from proteins. Biochemistry (1974) 12.07
Full-genome RNAi profiling of early embryogenesis in Caenorhabditis elegans. Nature (2005) 9.50
A standard variation file format for human genome sequences. Genome Biol (2010) 7.83
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res (2009) 6.83
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature (2010) 6.26
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet (2010) 5.44
N-terminal acetylation of cellular proteins creates specific degradation signals. Science (2010) 4.56
Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humans. Proc Natl Acad Sci U S A (2009) 4.09
Identification and characterization of genes and mutants for an N-terminal acetyltransferase from yeast. EMBO J (1989) 4.08
Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome. Nature (2011) 3.56
A probabilistic disease-gene finder for personal genomes. Genome Res (2011) 3.23
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet (2010) 3.09
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet (2010) 2.76
Exome sequencing of a multigenerational human pedigree. PLoS One (2009) 2.48
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. PLoS One (2010) 1.99
Identification and characterization of the human ARD1-NATH protein acetyltransferase complex. Biochem J (2005) 1.96
Maximum-likelihood estimation of recent shared ancestry (ERSA). Genome Res (2011) 1.88
The GNUMAP algorithm: unbiased probabilistic mapping of oligonucleotides from next-generation sequencing. Bioinformatics (2009) 1.83
Human arrest defective 1 acetylates and activates beta-catenin, promoting lung cancer cell proliferation. Cancer Res (2006) 1.53
Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. Am J Med Genet A (2003) 1.43
Human Naa50p (Nat5/San) displays both protein N alpha- and N epsilon-acetyltransferase activity. J Biol Chem (2009) 1.29
Proteome-derived peptide libraries allow detailed analysis of the substrate specificities of N(alpha)-acetyltransferases and point to hNaa10p as the post-translational actin N(alpha)-acetyltransferase. Mol Cell Proteomics (2011) 1.27
Genetic manipulation indicates that ARD1 is an essential N(alpha)-acetyltransferase in Trypanosoma brucei. Mol Biochem Parasitol (2000) 1.19
N-α-acetyltransferase 10 protein suppresses cancer cell metastasis by binding PIX proteins and inhibiting Cdc42/Rac1 activity. Cancer Cell (2011) 1.17
hNaa10p contributes to tumorigenesis by facilitating DNMT1-mediated tumor suppressor gene silencing. J Clin Invest (2010) 1.11
Drosophila variable nurse cells encodes arrest defective 1 (ARD1), the catalytic subunit of the major N-terminal acetyltransferase complex. Dev Dyn (2010) 0.99
From the rarest to the most common: insights from progeroid syndromes into skin cancer and aging. J Invest Dermatol (2009) 0.99
Characterization of the native and fibrillar conformation of the human Nalpha-acetyltransferase ARD1. Protein Sci (2006) 0.96
Depletion of the human Nα-terminal acetyltransferase A induces p53-dependent apoptosis and p53-independent growth inhibition. Int J Cancer (2010) 0.95
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Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med (2013) 22.73
The genome sequence of the malaria mosquito Anopheles gambiae. Science (2002) 20.36
International network of cancer genome projects. Nature (2010) 20.35
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res (2007) 19.07
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45
The Sequence Ontology: a tool for the unification of genome annotations. Genome Biol (2005) 18.20
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Rare variants create synthetic genome-wide associations. PLoS Biol (2010) 14.43
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Genotype, haplotype and copy-number variation in worldwide human populations. Nature (2008) 12.40
Tackling the widespread and critical impact of batch effects in high-throughput data. Nat Rev Genet (2010) 11.82
Sequencing of 50 human exomes reveals adaptation to high altitude. Science (2010) 11.27
Rapid "open-source" engineering of customized zinc-finger nucleases for highly efficient gene modification. Mol Cell (2008) 11.24
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome. Science (2002) 9.59
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
Comparative genome and proteome analysis of Anopheles gambiae and Drosophila melanogaster. Science (2002) 9.43
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98
Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotechnol (2013) 7.97
A standard variation file format for human genome sequences. Genome Biol (2010) 7.83
Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives. Am J Bioeth (2012) 7.50
Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39
Identification of ALK as a major familial neuroblastoma predisposition gene. Nature (2008) 7.38
Addressing the ethical challenges in genetic testing and sequencing of children. Am J Bioeth (2014) 7.34
Model-based analysis of two-color arrays (MA2C). Genome Biol (2007) 7.28
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
Mobile elements create structural variation: analysis of a complete human genome. Genome Res (2009) 7.06
The microRNA spectrum in 12 body fluids. Clin Chem (2010) 6.82
Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet (2010) 6.74
Analysing biological pathways in genome-wide association studies. Nat Rev Genet (2010) 6.63
MAKER: an easy-to-use annotation pipeline designed for emerging model organism genomes. Genome Res (2007) 6.48
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet (2010) 5.44
Genetic evidence for high-altitude adaptation in Tibet. Science (2010) 5.37
MAKER2: an annotation pipeline and genome-database management tool for second-generation genome projects. BMC Bioinformatics (2011) 5.35
The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nat Genet (2004) 5.31
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Circular RNAs are abundant, conserved, and associated with ALU repeats. RNA (2012) 5.16
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet (2012) 4.87
Impact of in-scanner head motion on multiple measures of functional connectivity: relevance for studies of neurodevelopment in youth. Neuroimage (2012) 4.84
Human population genetic structure and inference of group membership. Am J Hum Genet (2003) 4.73
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
The sva package for removing batch effects and other unwanted variation in high-throughput experiments. Bioinformatics (2012) 4.48
A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction. Nat Genet (2005) 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
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med (2013) 4.37
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res (2009) 4.32
An improved framework for confound regression and filtering for control of motion artifact in the preprocessing of resting-state functional connectivity data. Neuroimage (2012) 4.30
Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry (2011) 4.29
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Nucleic Acids Res (2008) 4.22
Variants of DENND1B associated with asthma in children. N Engl J Med (2009) 4.18
Copy number variation at 1q21.1 associated with neuroblastoma. Nature (2009) 4.10
Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humans. Proc Natl Acad Sci U S A (2009) 4.09
Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med (2012) 4.04
Dynamic transcriptome of Schizosaccharomyces pombe shown by RNA-DNA hybrid mapping. Nat Genet (2008) 4.03
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet (2006) 3.94
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N Engl J Med (2008) 3.80
Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation. Hum Genomics (2005) 3.77
Reverse engineering cellular networks. Nat Protoc (2006) 3.67
Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. Nat Genet (2011) 3.66
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med (2011) 3.51
Direct interaction between Nrf2 and p21(Cip1/WAF1) upregulates the Nrf2-mediated antioxidant response. Mol Cell (2009) 3.50
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42
Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. Am J Hum Genet (2009) 3.41
Surgery with molecular fluorescence imaging using activatable cell-penetrating peptides decreases residual cancer and improves survival. Proc Natl Acad Sci U S A (2010) 3.41