Published in PLoS One on October 08, 2012
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Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet (2015) 2.15
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The African Turquoise Killifish Genome Provides Insights into Evolution and Genetic Architecture of Lifespan. Cell (2015) 1.86
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Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. J Clin Oncol (2015) 1.01
Two Antarctic penguin genomes reveal insights into their evolutionary history and molecular changes related to the Antarctic environment. Gigascience (2014) 1.00
Herpes zoster caused by vaccine-strain varicella zoster virus in an immunocompetent recipient of zoster vaccine. Clin Infect Dis (2014) 1.00
Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm. Oncotarget (2014) 1.00
A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy. Chest (2013) 1.00
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Conserved 33-kb haplotype in the MHC class III region regulates chronic arthritis. Proc Natl Acad Sci U S A (2016) 0.98
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. Nat Neurosci (2016) 0.97
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet (2015) 0.97
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Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease. Neurol Genet (2016) 0.94
Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis. PLoS One (2014) 0.94
The Genomic Landscape of Male Breast Cancers. Clin Cancer Res (2016) 0.94
Novel SCN3A variants associated with focal epilepsy in children. Neurobiol Dis (2013) 0.93
Fitness costs of rifampicin resistance in Mycobacterium tuberculosis are amplified under conditions of nutrient starvation and compensated by mutation in the β' subunit of RNA polymerase. Mol Microbiol (2014) 0.93
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet (2015) 0.93
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Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. Proc Natl Acad Sci U S A (2016) 0.91
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A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. J Neurol Sci (2013) 0.91
Large-scale analysis of tandem repeat variability in the human genome. Nucleic Acids Res (2014) 0.91
A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance. BMC Neurol (2014) 0.90
Identification and characterization of transcript polymorphisms in soybean lines varying in oil composition and content. BMC Genomics (2014) 0.90
Germline mutations in MAP3K6 are associated with familial gastric cancer. PLoS Genet (2014) 0.90
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. JIMD Rep (2015) 0.90
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol (2015) 0.90
Using genome-wide measures of coancestry to maintain diversity and fitness in endangered and domestic pig populations. Genome Res (2015) 0.89
The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories. Genet Med (2015) 0.89
Systematic Mapping of Protein Mutational Space by Prolonged Drift Reveals the Deleterious Effects of Seemingly Neutral Mutations. PLoS Comput Biol (2015) 0.88
Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa. Sci Rep (2015) 0.88
Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome. J Hum Genet (2014) 0.88
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. Hum Mol Genet (2015) 0.88
Coordinated regulatory variation associated with gestational hyperglycaemia regulates expression of the novel hexokinase HKDC1. Nat Commun (2015) 0.87
The CXCR3-CXCL11 signaling axis mediates macrophage recruitment and dissemination of mycobacterial infection. Dis Model Mech (2015) 0.87
Functional classification of 15 million SNPs detected from diverse chicken populations. DNA Res (2015) 0.87
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet (2015) 0.87
Longitudinal analysis of 25 sequential sample-pairs using a custom multiple myeloma mutation sequencing panel (M(3)P). Ann Hematol (2015) 0.87
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Hum Mol Genet (2014) 0.87
Variability in pathogenicity prediction programs: impact on clinical diagnostics. Mol Genet Genomic Med (2014) 0.86
An extended set of yeast-based functional assays accurately identifies human disease mutations. Genome Res (2016) 0.85
Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel). Hum Mutat (2015) 0.85
Phenotypic and molecular analyses of primary lateral sclerosis. Neurol Genet (2015) 0.85
Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma. Nat Commun (2016) 0.85
MutaBind estimates and interprets the effects of sequence variants on protein-protein interactions. Nucleic Acids Res (2016) 0.85
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A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53
Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature (2008) 75.40
Cd-hit: a fast program for clustering and comparing large sets of protein or nucleotide sequences. Bioinformatics (2006) 43.68
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Identification of the cystic fibrosis gene: genetic analysis. Science (1989) 33.61
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
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PANTHER: a library of protein families and subfamilies indexed by function. Genome Res (2003) 21.64
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Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat (2007) 12.98
Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat (2003) 12.88
EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates. Genome Res (2008) 12.72
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
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Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res (2011) 10.99
Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet (2006) 9.80
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am J Hum Genet (2011) 8.53
Genetic variation in an individual human exome. PLoS Genet (2008) 6.68
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet (2011) 6.52
Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res (2005) 5.62
The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). N Engl J Med (1990) 4.70
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat (2008) 4.22
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. Proc Natl Acad Sci U S A (2003) 4.06
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res (2011) 2.89
Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene. PLoS Genet (2005) 2.38
Large-scale analysis of non-synonymous coding region single nucleotide polymorphisms. Bioinformatics (2004) 1.99
In-depth annotation of SNPs arising from resequencing projects using NGS-SNP. Bioinformatics (2011) 1.64
BLOSUM62 miscalculations improve search performance. Nat Biotechnol (2008) 1.24
A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome. Science (2002) 9.59
Genome sequence of Aedes aegypti, a major arbovirus vector. Science (2007) 9.19
Whole-genome shotgun assembly and comparison of human genome assemblies. Proc Natl Acad Sci U S A (2004) 6.08
Complete reannotation of the Arabidopsis genome: methods, tools, protocols and the final release. BMC Biol (2005) 4.18
A national human neuroimaging collaboratory enabled by the Biomedical Informatics Research Network (BIRN). IEEE Trans Inf Technol Biomed (2008) 3.84
Annotation of the Arabidopsis genome. Plant Physiol (2003) 3.06
A standard MIGS/MIMS compliant XML Schema: toward the development of the Genomic Contextual Data Markup Language (GCDML). OMICS (2008) 2.82
The TIGR Plant Transcript Assemblies database. Nucleic Acids Res (2006) 2.62
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Uneven chromosome contraction and expansion in the maize genome. Genome Res (2006) 1.96
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The JCVI standard operating procedure for annotating prokaryotic metagenomic shotgun sequencing data. Stand Genomic Sci (2010) 1.82
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Meeting report: the fifth Genomic Standards Consortium (GSC) workshop. OMICS (2008) 1.66
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