Published in Clin Genet on January 01, 2007
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet (2008) 8.78
Protein networks in disease. Genome Res (2008) 5.65
Network-based global inference of human disease genes. Mol Syst Biol (2008) 5.01
Associating genes and protein complexes with disease via network propagation. PLoS Comput Biol (2010) 3.65
GATES: a rapid and powerful gene-based association test using extended Simes procedure. Am J Hum Genet (2011) 3.34
PhenomeNET: a whole-phenome approach to disease gene discovery. Nucleic Acids Res (2011) 2.67
Structure and dynamics of molecular networks: a novel paradigm of drug discovery: a comprehensive review. Pharmacol Ther (2013) 2.64
Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62
Improved human disease candidate gene prioritization using mouse phenotype. BMC Bioinformatics (2007) 2.56
iRefWeb: interactive analysis of consolidated protein interaction data and their supporting evidence. Database (Oxford) (2010) 2.47
Genome-wide prioritization of disease genes and identification of disease-disease associations from an integrated human functional linkage network. Genome Biol (2009) 2.43
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet (2009) 2.41
Psychosis genetics: modeling the relationship between schizophrenia, bipolar disorder, and mixed (or "schizoaffective") psychoses. Schizophr Bull (2009) 2.39
ENDEAVOUR update: a web resource for gene prioritization in multiple species. Nucleic Acids Res (2008) 2.31
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A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases. Nucleic Acids Res (2012) 2.08
The power of protein interaction networks for associating genes with diseases. Bioinformatics (2010) 1.96
Prediction of human disease genes by human-mouse conserved coexpression analysis. PLoS Comput Biol (2008) 1.81
Function and dysfunction of the PI system in membrane trafficking. EMBO J (2008) 1.75
FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease. Genome Biol (2008) 1.58
A pathway-based view of human diseases and disease relationships. PLoS One (2009) 1.52
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. Am J Hum Genet (2015) 1.52
Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases. PLoS One (2011) 1.51
Enhancing the prioritization of disease-causing genes through tissue specific protein interaction networks. PLoS Comput Biol (2012) 1.51
DADA: Degree-Aware Algorithms for Network-Based Disease Gene Prioritization. BioData Min (2011) 1.44
Network properties of complex human disease genes identified through genome-wide association studies. PLoS One (2009) 1.42
An atlas of tissue-specific conserved coexpression for functional annotation and disease gene prediction. Eur J Hum Genet (2011) 1.40
Improving disease gene prioritization using the semantic similarity of Gene Ontology terms. Bioinformatics (2010) 1.37
Prioritization of disease microRNAs through a human phenome-microRNAome network. BMC Syst Biol (2010) 1.37
Uncover disease genes by maximizing information flow in the phenome-interactome network. Bioinformatics (2011) 1.32
Prediction of MicroRNA-Disease Associations Based on Social Network Analysis Methods. Biomed Res Int (2015) 1.31
Phenotype ontologies for mouse and man: bridging the semantic gap. Dis Model Mech (2010) 1.28
Advances in translational bioinformatics: computational approaches for the hunting of disease genes. Brief Bioinform (2009) 1.27
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Phenotype ontologies and cross-species analysis for translational research. PLoS Genet (2014) 1.19
The role of the interactome in the maintenance of deleterious variability in human populations. Mol Syst Biol (2014) 1.18
IPAD: the Integrated Pathway Analysis Database for Systematic Enrichment Analysis. BMC Bioinformatics (2012) 1.17
Understanding variable expressivity in microdeletion syndromes. Nat Genet (2010) 1.16
Conserved co-expression for candidate disease gene prioritization. BMC Bioinformatics (2008) 1.15
Diagnostically relevant facial gestalt information from ordinary photos. Elife (2014) 1.15
Multiple sclerosis genetics--is the glass half full, or half empty? Nat Rev Neurol (2010) 1.15
Linking genes to diseases: it's all in the data. Genome Med (2009) 1.14
Inferring gene-phenotype associations via global protein complex network propagation. PLoS One (2011) 1.08
A knowledge-based weighting framework to boost the power of genome-wide association studies. PLoS One (2010) 1.08
The biological coherence of human phenome databases. Am J Hum Genet (2009) 1.07
Babelomics 5.0: functional interpretation for new generations of genomic data. Nucleic Acids Res (2015) 1.07
Next-generation diagnostics and disease-gene discovery with the Exomiser. Nat Protoc (2015) 1.07
Approaches for recognizing disease genes based on network. Biomed Res Int (2014) 1.06
Constructing a gene semantic similarity network for the inference of disease genes. BMC Syst Biol (2011) 1.05
Interactome mapping suggests new mechanistic details underlying Alzheimer's disease. Genome Res (2010) 1.02
Protein localization as a principal feature of the etiology and comorbidity of genetic diseases. Mol Syst Biol (2011) 1.01
Guilt by rewiring: gene prioritization through network rewiring in genome wide association studies. Hum Mol Genet (2013) 1.00
DiseaseConnect: a comprehensive web server for mechanism-based disease-disease connections. Nucleic Acids Res (2014) 0.99
DAnCER: disease-annotated chromatin epigenetics resource. Nucleic Acids Res (2010) 0.98
Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules. Am J Hum Genet (2016) 0.96
Network analysis of genes regulated in renal diseases: implications for a molecular-based classification. BMC Bioinformatics (2009) 0.96
Integrating multiple protein-protein interaction networks to prioritize disease genes: a Bayesian regression approach. BMC Bioinformatics (2011) 0.96
Revealing and avoiding bias in semantic similarity scores for protein pairs. BMC Bioinformatics (2010) 0.95
The implications of relationships between human diseases and metabolic subpathways. PLoS One (2011) 0.94
Analysis of AML genes in dysregulated molecular networks. BMC Bioinformatics (2009) 0.93
Characterizing the network of drugs and their affected metabolic subpathways. PLoS One (2012) 0.92
Computational selection and prioritization of candidate genes for fetal alcohol syndrome. BMC Genomics (2007) 0.92
Approaches to Investigating Complex Genetic Traits in a Large-Scale Inbred Mouse Aging Study. Vet Pathol (2016) 0.91
Disease gene identification by random walk on multigraphs merging heterogeneous genomic and phenotype data. BMC Genomics (2012) 0.89
Measuring the functional sequence complexity of proteins. Theor Biol Med Model (2007) 0.88
Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases. Sci Rep (2015) 0.86
Prioritizing disease candidate genes by a gene interconnectedness-based approach. BMC Genomics (2011) 0.86
Computational tools for comparative phenomics: the role and promise of ontologies. Mamm Genome (2012) 0.85
Knowledge based identification of essential signaling from genome-scale siRNA experiments. BMC Syst Biol (2009) 0.85
Prioritization of candidate disease genes by topological similarity between disease and protein diffusion profiles. BMC Bioinformatics (2013) 0.85
New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models. Brief Funct Genomics (2011) 0.85
Analyzing gene expression data in mice with the Neuro Behavior Ontology. Mamm Genome (2013) 0.84
Pivotal role of the muscle-contraction pathway in cryptorchidism and evidence for genomic connections with cardiomyopathy pathways in RASopathies. BMC Med Genomics (2013) 0.84
Profiling of Parkin-binding partners using tandem affinity purification. PLoS One (2013) 0.84
Quantitative utilization of prior biological knowledge in the Bayesian network modeling of gene expression data. BMC Bioinformatics (2011) 0.84
OTX2 duplication is implicated in hemifacial microsomia. PLoS One (2014) 0.84
Automated ontological gene annotation for computing disease similarity. AMIA Jt Summits Transl Sci Proc (2010) 0.84
Mechanism-anchored profiling derived from epigenetic networks predicts outcome in acute lymphoblastic leukemia. BMC Bioinformatics (2009) 0.84
All or nothing: protein complexes flip essentiality between distantly related eukaryotes. Genome Biol Evol (2013) 0.84
Targeting molecular networks for drug research. Front Genet (2014) 0.84
Systems Genetics Analysis of Genome-Wide Association Study Reveals Novel Associations Between Key Biological Processes and Coronary Artery Disease. Arterioscler Thromb Vasc Biol (2015) 0.83
Assessing the impact of mutations found in next generation sequencing data over human signaling pathways. Nucleic Acids Res (2015) 0.83
Automated discovery and quantification of image-based complex phenotypes: a twin study of drusen phenotypes in age-related macular degeneration. Invest Ophthalmol Vis Sci (2011) 0.83
Identifying hypothetical genetic influences on complex disease phenotypes. BMC Bioinformatics (2009) 0.83
Network medicine: linking disorders. Hum Genet (2012) 0.83
DomainRBF: a Bayesian regression approach to the prioritization of candidate domains for complex diseases. BMC Syst Biol (2011) 0.82
Unbiased functional clustering of gene variants with a phenotypic-linkage network. PLoS Comput Biol (2014) 0.82
RASopathies: Presentation at the Genome, Interactome, and Phenome Levels. Mol Syndromol (2016) 0.81
Breast cancer genes PSMC3IP and EPSTI1 play a role in apoptosis regulation. PLoS One (2015) 0.81
The role of protein interaction networks in systems biomedicine. Comput Struct Biotechnol J (2014) 0.81
HPOSim: an R package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology. PLoS One (2015) 0.81
Interactomic and pharmacological insights on human sirt-1. Front Pharmacol (2012) 0.81
Identification of Essential Proteins Based on a New Combination of Local Interaction Density and Protein Complexes. PLoS One (2015) 0.81
A PLSPM-based test statistic for detecting gene-gene co-association in genome-wide association study with case-control design. PLoS One (2013) 0.81
Community of protein complexes impacts disease association. Eur J Hum Genet (2012) 0.81
Predicting Type 1 Diabetes Candidate Genes using Human Protein-Protein Interaction Networks. J Comput Sci Syst Biol (2009) 0.80
A computational method based on the integration of heterogeneous networks for predicting disease-gene associations. PLoS One (2011) 0.80
Predicting disease-related subnetworks for type 1 diabetes using a new network activity score. OMICS (2012) 0.80
Prioritizing candidate disease metabolites based on global functional relationships between metabolites in the context of metabolic pathways. PLoS One (2014) 0.80
Inference of gene-phenotype associations via protein-protein interaction and orthology. PLoS One (2013) 0.79
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet (2001) 6.96
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell (1999) 4.87
Predicting disease genes using protein-protein interactions. J Med Genet (2006) 4.10
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol Psychiatry (2007) 3.44
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet (2005) 3.03
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet (2001) 2.95
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet (2001) 2.80
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet (2005) 2.80
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Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet (2000) 2.41
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet (1999) 2.20
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet (2008) 2.09
Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet (1997) 2.06
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet (2004) 2.04
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet (2000) 2.03
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet (2001) 2.02
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology (2001) 1.97
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet (1999) 1.88
High prevalence of premalignant lesions in prophylactically removed breasts from women at hereditary risk for breast cancer. J Clin Oncol (2003) 1.86
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet (1999) 1.82
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet (2007) 1.76
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet (2009) 1.74
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet (1994) 1.69
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet (1996) 1.67
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet (1999) 1.67
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet (2005) 1.60
3-M syndrome: description of six new patients with review of the literature. Clin Dysmorphol (2001) 1.60
Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet (2002) 1.59
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet (2004) 1.56
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet (2008) 1.56
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Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. Clin Genet (2011) 1.46
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet (2003) 1.40
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Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet (2005) 1.36
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet (2009) 1.31
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation. J Med Genet (2004) 1.30
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A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. J Med Genet (2003) 1.20
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Probing the gene expression database for candidate genes. Eur J Hum Genet (1999) 1.18
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. Am J Hum Genet (1999) 1.18
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Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. Hum Mutat (2005) 1.16
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