Published in PLoS One on October 23, 2013
Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model. F1000Res (2015) 0.90
Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel). Hum Mutat (2015) 0.85
Computational approaches to study the effects of small genomic variations. J Mol Model (2015) 0.81
New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing. BMC Med Genomics (2015) 0.81
A comprehensive study of small non-frameshift insertions/deletions in proteins and prediction of their phenotypic effects by a machine learning method (KD4i). BMC Bioinformatics (2014) 0.79
Computational Pathology: A Path Ahead. Arch Pathol Lab Med (2015) 0.79
In silico identification and experimental validation of insertion-deletion polymorphisms in tomato genome. DNA Res (2014) 0.79
Disorder Prediction Methods, Their Applicability to Different Protein Targets and Their Usefulness for Guiding Experimental Studies. Int J Mol Sci (2015) 0.78
Discriminating between deleterious and neutral non-frameshifting indels based on protein interaction networks and hybrid properties. Mol Genet Genomics (2014) 0.76
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. Am J Med Genet A (2015) 0.76
Allelic imbalance of somatic mutations in cancer genomes and transcriptomes. Sci Rep (2017) 0.75
The pattern of DNA cleavage intensity around indels. Sci Rep (2015) 0.75
Whole-Genome Resequencing of Holstein Bulls for Indel Discovery and Identification of Genes Associated with Milk Composition Traits in Dairy Cattle. PLoS One (2016) 0.75
Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa. F1000Res (2016) 0.75
Pediatric Cystic Nephroma Is Morphologically, Immunohistochemically, and Genetically Distinct From Adult Cystic Nephroma. Am J Surg Pathol (2017) 0.75
Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer. Oncotarget (2015) 0.75
Leveraging multiple genomic data to prioritize disease-causing indels from exome sequencing data. Sci Rep (2017) 0.75
Smoothened gene alterations in keratocystic odontogenic tumors. Head Face Med (2014) 0.75
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity. Orphanet J Rare Dis (2016) 0.75
Caucasian Families Exhibit Significant Linkage of Myopia to Chromosome 11p. Invest Ophthalmol Vis Sci (2017) 0.75
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53
Tandem repeats finder: a program to analyze DNA sequences. Nucleic Acids Res (1999) 49.21
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res (2005) 44.08
The Pfam protein families database. Nucleic Acids Res (2011) 33.46
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
The UCSC Genome Browser database: update 2011. Nucleic Acids Res (2010) 16.24
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
The Human Gene Mutation Database: 2008 update. Genome Med (2009) 11.72
Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet (2006) 9.80
Predicting the functional effect of amino acid substitutions and indels. PLoS One (2012) 8.61
Intrinsically unstructured proteins. Trends Biochem Sci (2002) 7.96
Genetic variation in an individual human exome. PLoS Genet (2008) 6.68
Microsatellites: genomic distribution, putative functions and mutational mechanisms: a review. Mol Ecol (2002) 4.98
Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet (2005) 4.66
RONN: the bio-basis function neural network technique applied to the detection of natively disordered regions in proteins. Bioinformatics (2005) 4.18
Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89
Evolutionary rate heterogeneity in proteins with long disordered regions. J Mol Evol (2002) 2.46
Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes. Genome Res (2004) 1.73
Empirical analysis of protein insertions and deletions determining parameters for the correct placement of gaps in protein sequence alignments. J Mol Biol (2004) 1.51
Bioinformatics for personal genome interpretation. Brief Bioinform (2012) 1.51
Predicting the effects of frameshifting indels. Genome Biol (2012) 1.33
Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools. Brief Bioinform (2013) 1.23
DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels. Genome Biol (2013) 1.02
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62
Evaluation of next generation sequencing platforms for population targeted sequencing studies. Genome Biol (2009) 9.59
SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res (2012) 4.45
Power to detect risk alleles using genome-wide tag SNP panels. PLoS Genet (2007) 3.29
A mechanism for TCR sharing between T cell subsets and individuals revealed by pyrosequencing. J Immunol (2011) 2.20
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Predicting the effects of frameshifting indels. Genome Biol (2012) 1.33
The HuRef Browser: a web resource for individual human genomics. Nucleic Acids Res (2008) 0.96
Whole-exome sequencing identifies a polymorphism in the BMP5 gene associated with SSRI treatment response in major depression. J Psychopharmacol (2013) 0.79