相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Computational approaches to disease-gene prediction: rationale, classification and successes
Rosario M. Piro et al.
FEBS JOURNAL (2012)
Computational tools for prioritizing candidate genes: boosting disease gene discovery
Yves Moreau et al.
NATURE REVIEWS GENETICS (2012)
Recent approaches to the prioritization of candidate disease genes
Nadezhda T. Doncheva et al.
WILEY INTERDISCIPLINARY REVIEWS-SYSTEMS BIOLOGY AND MEDICINE (2012)
Association of RANBP1 Haplotype With Smooth Pursuit Eye Movement Abnormality
Hyun Sub Cheong et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2011)
Genome-Wide Association Study of Theta Band Event-Related Oscillations Identifies Serotonin Receptor Gene HTR7 Influencing Risk of Alcohol Dependence
Mark Zlojutro et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2011)
A guide to web tools to prioritize candidate genes
Leon-Charles Tranchevent et al.
BRIEFINGS IN BIOINFORMATICS (2011)
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis
Yaniv Erlich et al.
GENOME RESEARCH (2011)
Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans
Bernard Thienpont et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Follow-Up Association Studies of Chromosome Region 9q and Nonsyndromic Cleft Lip/Palate
Ariadne Letra et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Mutation in PQBP1 Is Associated With Periventricular Heterotopia
Volney L. Sheen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Haploinsufficiency of the LIM Domain Containing Preferred Translocation Partner in Lipoma (LPP) Gene in Patients With Tetralogy of Fallot and VACTERL Association
Cammon B. Arrington et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2 Duplication in Two Cousins With Metopic Craniosynostosis
Heather C. Mefford et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Molecular Characterization of a De Novo 6q24.2q25.3 Duplication Interrupting UTRN in a Patient With Arthrogryposis
Anne-Claude Tabet et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Metopic Craniosynostosis Due To Mutations in GLI3: A Novel Association
Donna M. McDonald-McGinn et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Characterization of the Chromosome 1q41q42.12 region, and the Candidate Gene DISP1, in Patients With CDH
Sibel Kantarci et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Evidence for a Recurrent Microdeletion at Chromosome 16p11.2 Associated With Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) and Hirschsprung Disease
Matthew G. Sampson et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
TBX2 Gene Duplication Associated With Complex Heart Defect and Skeletal Malformations
Francesca Clementina Radio et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Mutations in the G6PC3 Gene Cause Dursun Syndrome
Siddharth Banka et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Association Analysis of PALB2 and BRCA2 in Bipolar Disorder and Schizophrenia in a Scandinavian Case-Control Sample
Martin Tesli et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2010)
Variation at the GABAA Receptor Gene, Rho 1 (GABRR1) Associated With Susceptibility to Bipolar Schizoaffective Disorder
Elaine K. Green et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2010)
Candidate gene prioritization by network analysis of differential expression using machine learning approaches
Daniela Nitsch et al.
BMC BIOINFORMATICS (2010)
Association between colony-stimulating factor 1 receptor gene polymorphisms and asthma risk
Eun Kyong Shin et al.
HUMAN GENETICS (2010)
IFNG +874 T>A single nucleotide polymorphism is associated with leprosy among Brazilians
C. C. Cardoso et al.
HUMAN GENETICS (2010)
Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12 566 individuals
Farren B. S. Briggs et al.
HUMAN MOLECULAR GENETICS (2010)
TRAF6 promotes atypical ubiquitination of mutant DJ-1 and alpha-synuclein and is localized to Lewy bodies in sporadic Parkinson's disease brains
Silvia Zucchelli et al.
HUMAN MOLECULAR GENETICS (2010)
Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease
Dermot P. B. McGovern et al.
HUMAN MOLECULAR GENETICS (2010)
Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease
Karin Fransen et al.
HUMAN MOLECULAR GENETICS (2010)
Loss-of-Function Mutations of CHST14 in a New Type of Ehlers-Danlos Syndrome
Noriko Miyake et al.
HUMAN MUTATION (2010)
Positive Newborn Screen for Methylmalonic Aciduria Identifies the First Mutation in TCblR/CD320, the Gene for Cellular Uptake of Transcobalamin-bound Vitamin B12
Edward V. Quadros et al.
HUMAN MUTATION (2010)
Mutations in SOX17 are Associated with Congenital Anomalies of the Kidney and the Urinary Tract
Stefania Gimelli et al.
HUMAN MUTATION (2010)
Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behcet's disease susceptibility loci
Nobuhisa Mizuki et al.
NATURE GENETICS (2010)
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer
Clare Turnbull et al.
NATURE GENETICS (2010)
Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis
Gideon M. Hirschfield et al.
NATURE GENETICS (2010)
Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes
Gorica Nikoloski et al.
NATURE GENETICS (2010)
A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci
Jin-Xin Bei et al.
NATURE GENETICS (2010)
Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations
Daiki Miki et al.
NATURE GENETICS (2010)
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
Timothy W. Yu et al.
NATURE GENETICS (2010)
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet's disease
Elaine F. Remmers et al.
NATURE GENETICS (2010)
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
Tobias B. Haack et al.
NATURE GENETICS (2010)
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma
Christian C. Abnet et al.
NATURE GENETICS (2010)
Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54
Li-Dong Wang et al.
NATURE GENETICS (2010)
WDR62 is associated with the spindle pole and is mutated in human microcephaly
Adeline K. Nicholas et al.
NATURE GENETICS (2010)
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Edgar A. Otto et al.
NATURE GENETICS (2010)
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis
Xiangdong Liu et al.
NATURE GENETICS (2010)
Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm
Solveig Gretarsdottir et al.
NATURE GENETICS (2010)
A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B
Toshimasa Yamauchi et al.
NATURE GENETICS (2010)
Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2
Eva Ellinghaus et al.
NATURE GENETICS (2010)
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis
Ulrike Hueffmeier et al.
NATURE GENETICS (2010)
Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy.
James R. Lupski et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
GeneCards Version 3: the human gene integrator
Marilyn Safran et al.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2010)
Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations
Anna Rajab et al.
PLOS GENETICS (2010)
Genome sequencing reveals Charcot-Marie-Tooth disease mutation
[Anonymous]
FUTURE NEUROLOGY (2010)
Comparison of automated candidate gene prediction systems using genes implicated in type 2 diabetes by genome-wide association studies
Erdahl T. Teber et al.
BMC BIOINFORMATICS (2009)
CURRENT CONCEPTS Genomewide Association Studies and Human Disease
John Hardy et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
PosMed (Positional Medline): prioritizing genes with an artificial neural network comprising medical documents to accelerate positional cloning
Yuko Yoshida et al.
NUCLEIC ACIDS RESEARCH (2009)
BioMart Central Portal-unified access to biological data
Syed Haider et al.
NUCLEIC ACIDS RESEARCH (2009)
Linking genes to diseases: it's all in the data
Nicki Tiffin et al.
GENOME MEDICINE (2009)
Integrating Computational Biology and Forward Genetics in Drosophila
Stein Aerts et al.
PLOS GENETICS (2009)
Genome-wide prioritization of disease genes and identification of disease-disease associations from an integrated human functional linkage network
Bolan Linghu et al.
GENOME BIOLOGY (2009)
Walking the interactome for prioritization of candidate disease genes
Sebastian Koehler et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohort
Jana V. van Vliet-Ostaptchouk et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
CANDID: A Flexible Method for Prioritizing Candidate Genes for Complex Human Traits
Janna E. Hutz et al.
GENETIC EPIDEMIOLOGY (2008)
GeneDistiller-Distilling Candidate Genes from Linkage Intervals
Dominik Seelow et al.
PLOS ONE (2008)
Prioritization of positional candidate genes using multiple web-based software tools
Tobias A. Thornblad et al.
TWIN RESEARCH AND HUMAN GENETICS (2007)
Improved human disease candidate gene prioritization using mouse phenotype
Jing Chen et al.
BMC BIOINFORMATICS (2007)
A strategy to search for common obesity and type 2 diabetes genes
Clara C. Elbers et al.
TRENDS IN ENDOCRINOLOGY AND METABOLISM (2007)
A text-mining analysis of the human phenome
MA van Driel et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2006)
Systematic identification of human mitochondrial disease genes through integrative genomics
S Calvo et al.
NATURE GENETICS (2006)
Gene prioritization through genomic data fusion
S Aerts et al.
NATURE BIOTECHNOLOGY (2006)
SUSPECTS: enabling fast and effective prioritization of positional candidates
EA Adie et al.
BIOINFORMATICS (2006)
Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes
Nicki Tiffin et al.
NUCLEIC ACIDS RESEARCH (2006)
GoPubMed: Exploring PubMed with the gene ontology
A Doms et al.
NUCLEIC ACIDS RESEARCH (2005)