Using literature-based discovery to identify disease candidate genes.

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet (2008) 8.78

Annotating the human genome with Disease Ontology. BMC Genomics (2009) 4.71

Frontiers of biomedical text mining: current progress. Brief Bioinform (2007) 4.11

Biomedical ontologies in action: role in knowledge management, data integration and decision support. Yearb Med Inform (2008) 3.96

Word Sense Disambiguation by Selecting the Best Semantic Type Based on Journal Descriptor Indexing: Preliminary Experiment. J Am Soc Inf Sci Technol (2006) 2.38

Iron behaving badly: inappropriate iron chelation as a major contributor to the aetiology of vascular and other progressive inflammatory and degenerative diseases. BMC Med Genomics (2009) 2.36

ENDEAVOUR update: a web resource for gene prioritization in multiple species. Nucleic Acids Res (2008) 2.31

Exploiting semantic relations for literature-based discovery. AMIA Annu Symp Proc (2006) 2.15

Anni 2.0: a multipurpose text-mining tool for the life sciences. Genome Biol (2008) 2.04

Arrowsmith two-node search interface: a tutorial on finding meaningful links between two disparate sets of articles in MEDLINE. Comput Methods Programs Biomed (2009) 1.96

Recent progress in automatically extracting information from the pharmacogenomic literature. Pharmacogenomics (2010) 1.88

Defrosting the digital library: bibliographic tools for the next generation web. PLoS Comput Biol (2008) 1.88

An integrative approach to ortholog prediction for disease-focused and other functional studies. BMC Bioinformatics (2011) 1.79

FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease. Genome Biol (2008) 1.58

Argument-predicate distance as a filter for enhancing precision in extracting predications on the genetic etiology of disease. BMC Bioinformatics (2006) 1.55

A pathway-based view of human diseases and disease relationships. PLoS One (2009) 1.52

Candidate gene identification approach: progress and challenges. Int J Biol Sci (2007) 1.51

MeInfoText: associated gene methylation and cancer information from text mining. BMC Bioinformatics (2008) 1.34

Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists. BMC Bioinformatics (2005) 1.30

Phenotype ontologies for mouse and man: bridging the semantic gap. Dis Model Mech (2010) 1.28

Discovering and visualizing indirect associations between biomedical concepts. Bioinformatics (2011) 1.26

EpiphaNet: An Interactive Tool to Support Biomedical Discoveries. J Biomed Discov Collab (2010) 1.24

Discovering discovery patterns with Predication-based Semantic Indexing. J Biomed Inform (2012) 1.22

PINTA: a web server for network-based gene prioritization from expression data. Nucleic Acids Res (2011) 1.16

Using the literature-based discovery paradigm to investigate drug mechanisms. AMIA Annu Symp Proc (2007) 1.14

Similarly strong purifying selection acts on human disease genes of all evolutionary ages. Genome Biol Evol (2009) 1.07

Systematic identification of pharmacogenomics information from clinical trials. J Biomed Inform (2012) 1.03

Mining the pharmacogenomics literature--a survey of the state of the art. Brief Bioinform (2012) 1.02

Inferring novel gene-disease associations using Medical Subject Heading Over-representation Profiles. Genome Med (2012) 1.01

Literature retrieval and mining in bioinformatics: state of the art and challenges. Adv Bioinformatics (2012) 0.99

A graph-based recovery and decomposition of Swanson's hypothesis using semantic predications. J Biomed Inform (2012) 0.96

The orphan disease networks. Am J Hum Genet (2011) 0.92

Biomine: predicting links between biological entities using network models of heterogeneous databases. BMC Bioinformatics (2012) 0.90

Comparing a Rule Based vs. Statistical System for Automatic Categorization of MEDLINE Documents According to Biomedical Specialty. J Am Soc Inf Sci Technol (2009) 0.89

Retracted Candidate gene prioritization. Mol Genet Genomics (2012) 0.88

Analysis of genome-wide association study data using the protein knowledge base. BMC Genet (2011) 0.86

Identification of highly related references about gene-disease association. BMC Bioinformatics (2014) 0.85

PubMedMiner: Mining and Visualizing MeSH-based Associations in PubMed. AMIA Annu Symp Proc (2014) 0.85

Automated ontological gene annotation for computing disease similarity. AMIA Jt Summits Transl Sci Proc (2010) 0.84

Identifying hypothetical genetic influences on complex disease phenotypes. BMC Bioinformatics (2009) 0.83

Large-scale structure of a network of co-occurring MeSH terms: statistical analysis of macroscopic properties. PLoS One (2014) 0.83

What the papers say: text mining for genomics and systems biology. Hum Genomics (2010) 0.82

Identification of histone modifications in biomedical text for supporting epigenomic research. BMC Bioinformatics (2009) 0.82

GPSy: a cross-species gene prioritization system for conserved biological processes--application in male gamete development. Nucleic Acids Res (2012) 0.82

A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis. Biol Direct (2011) 0.81

Graph theory enables drug repurposing--how a mathematical model can drive the discovery of hidden mechanisms of action. PLoS One (2014) 0.80

Enabling online studies of conceptual relationships between medical terms: developing an efficient web platform. JMIR Med Inform (2014) 0.80

Context-driven automatic subgraph creation for literature-based discovery. J Biomed Inform (2015) 0.78

Integration of data from omic studies with the literature-based discovery towards identification of novel treatments for neovascularization in diabetic retinopathy. Biomed Res Int (2013) 0.77

Semi-automated literature mining to identify putative biomarkers of disease from multiple biofluids. J Clin Bioinforma (2014) 0.76

A fast document classification algorithm for gene symbol disambiguation in the BITOLA literature-based discovery support system. AMIA Annu Symp Proc (2008) 0.76

Candidate gene identification for systemic lupus erythematosus using network centrality measures and gene ontology. PLoS One (2013) 0.76

Gene-Disease Interaction Retrieval from Multiple Sources: A Network Based Method. Biomed Res Int (2016) 0.75

Semisupervised Learning Based Disease-Symptom and Symptom-Therapeutic Substance Relation Extraction from Biomedical Literature. Biomed Res Int (2016) 0.75

Can the vector space model be used to identify biological entity activities? BMC Genomics (2011) 0.75

Discovering relations between indirectly connected biomedical concepts. J Biomed Semantics (2015) 0.75

Networks of neuroinjury semantic predications to identify biomarkers for mild traumatic brain injury. J Biomed Semantics (2015) 0.75

Evaluation of the informatician perspective: determining types of research papers preferred by clinicians. BMC Med Inform Decis Mak (2017) 0.75

The NLM Indexing Initiative's Medical Text Indexer. Stud Health Technol Inform (2004) 4.72

Gene indexing: characterization and analysis of NLM's GeneRIFs. AMIA Annu Symp Proc (2003) 3.69

Evaluation of the UMLS as a terminology and knowledge resource for biomedical informatics. Proc AMIA Symp (2002) 2.20

Exploiting semantic relations for literature-based discovery. AMIA Annu Symp Proc (2006) 2.15

Effectiveness of topic-specific infobuttons: a randomized controlled trial. J Am Med Inform Assoc (2008) 1.97

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

Evaluating the informatics for integrating biology and the bedside system for clinical research. BMC Med Res Methodol (2009) 1.82

Fuzzy measures on the Gene Ontology for gene product similarity. IEEE/ACM Trans Comput Biol Bioinform (2006) 1.67

Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion. Am J Med Genet A (2012) 1.59

Genetic polymorphisms in vasoactive genes and preeclampsia: a meta-analysis. Eur J Obstet Gynecol Reprod Biol (2006) 1.59

Multiple approaches to fine-grained indexing of the biomedical literature. Pac Symp Biocomput (2007) 1.58

The BioMediator system as a data integration tool to answer diverse biologic queries. Stud Health Technol Inform (2004) 1.58

A recent advance in the automatic indexing of the biomedical literature. J Biomed Inform (2008) 1.57

Evidence-based retrieval in evidence-based medicine. J Med Libr Assoc (2004) 1.55

Hemochromatosis-causing mutations C282Y and H63D are not risk factors for atherothrombotic cerebral infarction. Med Sci Monit (2005) 1.40

Local and genetic determinants of vascular endothelial growth factor expression in advanced proliferative diabetic retinopathy. Mol Vis (2008) 1.39

Y chromosome azoospermia factor region microdeletions are not associated with idiopathic recurrent spontaneous abortion in a Slovenian population: association study and literature review. Fertil Steril (2013) 1.39

Architecture of a federated query engine for heterogeneous resources. AMIA Annu Symp Proc (2009) 1.37

Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. Am J Respir Crit Care Med (2005) 1.37

Using wireless handheld computers to seek information at the point of care: an evaluation by clinicians. J Am Med Inform Assoc (2007) 1.26

Status of clinical gene sequencing data reporting and associated risks for information loss. J Biomed Inform (2006) 1.14

Comparison of compliance for colorectal cancer screening and surveillance by colonoscopy based on risk. Genet Med (2011) 1.13

Evaluation of WordNet as a source of lay knowledge for molecular biology and genetic diseases: a feasibility study. Stud Health Technol Inform (2003) 1.13

MEDLINE as a source of just-in-time answers to clinical questions. AMIA Annu Symp Proc (2006) 1.11

Integrating genetic information resources with an EHR. AMIA Annu Symp Proc (2006) 1.08

Utah's statewide informatics platform for translational and clinical science. AMIA Annu Symp Proc (2008) 1.07

Using literature-based discovery to identify novel therapeutic approaches. Cardiovasc Hematol Agents Med Chem (2013) 1.06

Efficiency of CYP2C9 genetic test representation for automated pharmacogenetic decision support. Methods Inf Med (2009) 1.06

Association of vascular endothelial growth factor gene polymorphism with myocardial infarction in patients with type 2 diabetes. Cardiology (2007) 1.05

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet (2008) 1.05

Improving literature based discovery support by genetic knowledge integration. Stud Health Technol Inform (2003) 1.03

Nanoinformatics: a new area of research in nanomedicine. Int J Nanomedicine (2012) 1.03

Insertion/deletion plasminogen activator inhibitor 1 and insertion/deletion angiotensin-converting enzyme gene polymorphisms in diabetic retinopathy in type 2 diabetes. Ophthalmologica (2003) 1.01

Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene. PLoS One (2011) 0.98

Gly482Ser polymorphism of the peroxisome proliferator-activated receptor-gamma coactivator-1 gene might be a risk factor for diabetic retinopathy in Slovene population (Caucasians) with type 2 diabetes and the Pro12Ala polymorphism of the PPARgamma gene is not. Diabetes Metab Res Rev (2005) 0.92

Federating clinical data from six pediatric hospitals: process and initial results for microbiology from the PHIS+ consortium. AMIA Annu Symp Proc (2012) 0.92

Nanoinformatics: new challenges for biomedical informatics at the nano level. Stud Health Technol Inform (2009) 0.90

Gene expression changes in blood as a putative biomarker for Huntington's disease. Mov Disord (2009) 0.89

Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants. J Am Med Inform Assoc (2011) 0.89

Genetic markers of restenosis after coronary angioplasty and after stent implantation. Med Sci Monit (2005) 0.89

Patients with primary cataract as a genetic pool of DMPK protomutation. J Hum Genet (2006) 0.88

Human Y-specific STR haplotypes in the Western Croatian population sample. Forensic Sci Int (2005) 0.88

Fragile X premutation in women with sporadic premature ovarian failure in Slovenia. Hum Reprod (2003) 0.88

Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample. Am J Med Genet A (2013) 0.88

Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting. Genome Med (2012) 0.86

Design and evaluation of a personal digital assistant- based alerting service for clinicians. J Med Libr Assoc (2004) 0.86

Distribution of HFE gene mutations in Slovenian patients with hereditary hemochromatosis. Ann Hematol (2008) 0.85

BglII gene polymorphism of the alpha2beta1 integrin gene is a risk factor for diabetic retinopathy in Caucasians with type 2 diabetes. J Hum Genet (2003) 0.85

Association between genetic polymorphisms in cytokine genes and recurrent miscarriage--a meta-analysis. Reprod Biomed Online (2009) 0.84

Interstitial deletion 2p11.2-p12: further delineation. Am J Med Genet A (2009) 0.84

Association between male infertility and genetic variability at the PON1/2 and GSTM1/T1 gene loci. Reprod Biomed Online (2011) 0.83

Polymorphisms in the interleukin-12/18 genes and recurrent spontaneous abortion. Am J Reprod Immunol (2007) 0.83

Aldose reductase (AC)n gene polymorphism and susceptibility to diabetic retinopathy in Type 2 diabetes in Caucasians. J Diabetes Complications (2005) 0.83

The - 429 T/C and - 374 T/A gene polymorphisms of the receptor of advanced glycation end products gene are not risk factors for diabetic retinopathy in Caucasians with type 2 diabetes. Klin Monbl Augenheilkd (2003) 0.83

Matrix metalloproteinases 1, 2, 3 and 9 functional single-nucleotide polymorphisms in idiopathic recurrent spontaneous abortion. Reprod Biomed Online (2012) 0.82

Gene polymorphisms of the renin-angiotensin-aldosterone system and essential arterial hypertension in childhood. Folia Biol (Krakow) (2002) 0.82

Histamine N-methyltransferase Thr105Ile polymorphism is associated with Parkinson's disease. Neurobiol Aging (2011) 0.82

The interleukin-1 receptor antagonist gene and the inhibitor of kappa B-like protein gene polymorphisms are not associated with myocardial infarction in Slovene population with type 2 diabetes. Coll Antropol (2007) 0.82

Telegenetics: the next phase in the provision of genetics services? Genet Med (2005) 0.81

4G4G genotype of PAI-1 gene promoter polymorphism is not associated with myocardial infarction in Caucasians with type-2 diabetes. Cardiology (2003) 0.80

'Genetics home reference': helping patients understand the role of genetics in health and disease. Community Genet (2006) 0.80

Assessing clinical researchers' information needs to create responsive portals and tools: my Research Assistant (MyRA) at the University of Utah: a case study. J Med Libr Assoc (2013) 0.80

Detection of thrombophilic mutations related to spontaneous abortions by a multiplex SNaPshot method. Genet Test Mol Biomarkers (2011) 0.80

Search for sarcoidosis candidate genes by integration of data from genomic, transcriptomic and proteomic studies. Med Sci Monit (2009) 0.80

Association of angiotensin-converting enzyme/DD genotype with sarcoidosis susceptibility in Slovenian patients. Med Sci Monit (2007) 0.80

Using information prescriptions to refer patients with metabolic conditions to the Genetics Home Reference website. J Med Libr Assoc (2011) 0.80

PAI and TPA gene polymorphisms in multiple sclerosis. Mult Scler (2007) 0.80

Copy number of DAZ genes in infertile men. Fertil Steril (2005) 0.80

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet (2015) 0.80

Genetic variation in circadian rhythm genes CLOCK and ARNTL as risk factor for male infertility. PLoS One (2013) 0.80

Angiotensin-converting enzyme gene polymorphism in patients with multiple sclerosis from Bosnia and Herzegovina. Genet Test Mol Biomarkers (2011) 0.79

A model of interprofessional informatics education. Stud Health Technol Inform (2006) 0.79

Positional integratomic approach in identification of genomic candidate regions for Parkinson's disease. Bioinformatics (2011) 0.79

How well does family history predict who will get colorectal cancer? Implications for cancer screening and counseling. Genet Med (2011) 0.79

Role of genetic polymorphisms in ACE and TNF-alpha gene in sarcoidosis: a meta-analysis. J Hum Genet (2007) 0.79

Factor V Leiden, prothrombin 20210G --> A, methylenetetrahydrofolate reductase 677C --> T and plasminogen activator inhibitor 4G/5G polymorphism in women with pregnancy-related venous thromboembolism. Eur J Obstet Gynecol Reprod Biol (2003) 0.79

Genetic predisposition to idiopathic recurrent spontaneous abortion: contribution of genetic variations in IGF-2 and H19 imprinted genes. Am J Reprod Immunol (2008) 0.79

Family history as a predictor for disease risk in healthy individuals: a cross-sectional study in Slovenia. PLoS One (2013) 0.79

Epidemiology of multiple sclerosis in western Herzegovina. Clin Neurol Neurosurg (2007) 0.79

Expression signature as a biomarker for prenatal diagnosis of trisomy 21. PLoS One (2013) 0.79

Single signal of the Williams syndrome chromosome region 1 gene in hyperploidic bone marrow cells of acute lymphoblastic leukemia in a Williams syndrome patient. Med Pediatr Oncol (2002) 0.79

Mutations in the hemochromatosis gene (HFE) and multiple sclerosis. Neurosci Lett (2005) 0.78

Low frequency of HFE gene mutations in Croatian patients suspected of having hereditary hemochromatosis. Med Sci Monit (2011) 0.78

A method for verifying a vector-based text classification system. AMIA Annu Symp Proc (2008) 0.78

Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina. Coll Antropol (2006) 0.78

Semantic relations for interpreting DNA microarray data. AMIA Annu Symp Proc (2009) 0.78

No association of CCR5delta32 gene mutation with multiple sclerosis in Croatian and Slovenian patients. Mult Scler (2006) 0.78

Evaluation of LOINC for representing constitutional cytogenetic test result reports. AMIA Annu Symp Proc (2009) 0.78

Identifying candidate genes for Parkinson's disease by integrative genomics method. Biochem Med (Zagreb) (2011) 0.77

C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment. BMC Ear Nose Throat Disord (2005) 0.77

To telemedically err is human. Jt Comm J Qual Saf (2004) 0.77

Genetic variation in tissue inhibitors of metalloproteinases as a risk factor for idiopathic recurrent spontaneous abortion. Fertil Steril (2013) 0.77

Graphical visualization and navigation of genetic disease information. AMIA Annu Symp Proc (2003) 0.77

Fibrinogen polymorphisms TaqI, HaeIII and BclI are not associated with a higher risk of deep vein thrombosis. Pathophysiol Haemost Thromb (2004) 0.77

Tumor necrosis factor-alpha-308 gene polymorphism in Croatian and Slovenian multiple sclerosis patients. Eur Neurol (2007) 0.77

Sex difference in the effect of ACE-DD genotype on the risk of premature myocardial infarction. Angiology (2004) 0.77

Y chromosome microdeletions in infertile men with cryptorchidism. Fertil Steril (2003) 0.77

Interleukin 7 receptor alpha polymorphism rs6897932 and susceptibility to multiple sclerosis in the Western Balkans. Mult Scler (2010) 0.77