Published in BMC Med Genomics on December 03, 2014
Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia. Leukemia (2016) 1.45
The genotypic and phenotypic spectrum of PIGA deficiency. Orphanet J Rare Dis (2015) 0.81
Uncovering disease mechanisms through network biology in the era of Next Generation Sequencing. Sci Rep (2016) 0.80
Concurrent Mutations in ATM and Genes Associated with Common γ Chain Signaling in Peripheral T Cell Lymphoma. PLoS One (2015) 0.78
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. PLoS Genet (2016) 0.77
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms. Orphanet J Rare Dis (2015) 0.75
Mutations in HECW2 are associated with intellectual disability and epilepsy. J Med Genet (2016) 0.75
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation. Cold Spring Harb Mol Case Stud (2017) 0.75
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud (2017) 0.75
Germline Variants of Prostate Cancer in Japanese Families. PLoS One (2016) 0.75
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders. Am J Hum Genet (2017) 0.75
Settling the score: variant prioritization and Mendelian disease. Nat Rev Genet (2017) 0.75
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
A haplotype map of the human genome. Nature (2005) 105.70
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53
dbSNP: the NCBI database of genetic variation. Nucleic Acids Res (2001) 76.97
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res (2005) 44.08
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62
Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet (2008) 30.94
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
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet (2014) 14.56
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Ensembl 2014. Nucleic Acids Res (2013) 12.62
Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res (2009) 12.58
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
De novo gene disruptions in children on the autistic spectrum. Neuron (2012) 9.69
Mendelian Inheritance in Man and its online version, OMIM. Am J Hum Genet (2007) 9.61
Charting a course for genomic medicine from base pairs to bedside. Nature (2011) 9.39
Guidelines for investigating causality of sequence variants in human disease. Nature (2014) 7.30
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
Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet (2013) 6.67
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet (2013) 5.58
A navigator for human genome epidemiology. Nat Genet (2008) 5.07
Genetic disorders in children and young adults: a population study. Am J Hum Genet (1988) 4.98
Genenames.org: the HGNC resources in 2013. Nucleic Acids Res (2012) 3.69
A survey of tools for variant analysis of next-generation genome sequencing data. Brief Bioinform (2013) 3.60
Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet (2013) 3.42
Computational tools for prioritizing candidate genes: boosting disease gene discovery. Nat Rev Genet (2012) 2.92
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat (2010) 2.67
Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62
Revisiting Mendelian disorders through exome sequencing. Hum Genet (2011) 2.57
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet (2013) 2.10
Monogenic disorders. J Med Genet (1977) 1.94
One hundred years of pleiotropy: a retrospective. Genetics (2010) 1.91
Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders. J Hum Genet (2012) 1.70
MetaPhOrs: orthology and paralogy predictions from multiple phylogenetic evidence using a consistency-based confidence score. Nucleic Acids Res (2010) 1.59
Mutation of SENP1/SuPr-2 reveals an essential role for desumoylation in mouse development. Mol Cell Biol (2005) 1.52
The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource. Mol Genet Metab (2014) 1.25
Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools. Brief Bioinform (2013) 1.23
Inferring orthology and paralogy. Methods Mol Biol (2012) 1.17
SUMO-specific protease 1 is critical for early lymphoid development through regulation of STAT5 activation. Mol Cell (2012) 1.11
SENP1-mediated GATA1 deSUMOylation is critical for definitive erythropoiesis. J Exp Med (2010) 1.10
Saturation of the human phenome. Curr Genomics (2010) 1.09
Towards building a disease-phenotype knowledge base: extracting disease-manifestation relationship from literature. Bioinformatics (2013) 1.06
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. Hum Mutat (2012) 1.05
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. Am J Hum Genet (2014) 0.99
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Hum Mutat (2014) 0.99
Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet (2012) 0.98
Human monogenic disease genes have frequently functionally redundant paralogs. PLoS Comput Biol (2013) 0.97
PhyloTreePruner: A Phylogenetic Tree-Based Approach for Selection of Orthologous Sequences for Phylogenomics. Evol Bioinform Online (2013) 0.92
Compensating for literature annotation bias when predicting novel drug-disease relationships through Medical Subject Heading Over-representation Profile (MeSHOP) similarity. BMC Med Genomics (2013) 0.89
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol (2012) 0.89
Molecular mechanisms of paralogous compensation and the robustness of cellular networks. J Exp Zool B Mol Dev Evol (2013) 0.88
Computational disease gene prioritization: an appraisal. J Comput Biol (2014) 0.87
CHARGE and Kabuki syndromes: a phenotypic and molecular link. Hum Mol Genet (2014) 0.87
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. J Hum Genet (2014) 0.84
The European union policy in the field of rare diseases. Public Health Genomics (2014) 0.81
[Information on rare diseases: the Orphanet project]. Rev Med Interne (1998) 0.80
A literature search tool for intelligent extraction of disease-associated genes. J Am Med Inform Assoc (2013) 0.79
Correction to: FLAGS, frequently mutated genes in public exomes. BMC Med Genomics (2017) 0.75