An unbiased evaluation of gene prioritization tools

Computational approaches to disease-gene prediction: rationale, classification and successes

(2012) Rosario M. Piro et al.   FEBS Journal

Computational tools for prioritizing candidate genes: boosting disease gene discovery

(2012) Yves Moreau et al.   NATURE REVIEWS GENETICS

Recent approaches to the prioritization of candidate disease genes

(2012) Nadezhda T. Doncheva et al.   Wiley Interdisciplinary Reviews-Systems Biology and Medicine

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

(2011) Y. Erlich et al.   GENOME RESEARCH

Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

(2010) Bernard Thienpont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate

(2010) Ariadne Letra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation in PQBP1 is associated with periventricular heterotopia

(2010) Volney L. Sheen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association

(2010) Cammon B. Arrington et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Copy number variation analysis in single-suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis

(2010) Heather C. Mefford et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis

(2010) Anne-Claude Tabet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Metopic craniosynostosis due to mutations in GLI3: A novel association

(2010) Donna M. McDonald-McGinn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH

(2010) Sibel Kantarci et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

(2010) Matthew G. Sampson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TBX2 gene duplication associated with complex heart defect and skeletal malformations

(2010) Francesca Clementina Radio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in the G6PC3 gene cause Dursun syndrome

(2010) Siddharth Banka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Association of RANBP1 haplotype with smooth pursuit eye movement abnormality

(2010) Hyun Sub Cheong et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Association analysis of PALB2 and BRCA2 in bipolar disorder and schizophrenia in a scandinavian case-control sample

(2010) Martin Tesli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder

(2010) Elaine K. Green et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence

(2010) Mark Zlojutro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Candidate gene prioritization by network analysis of differential expression using machine learning approaches

(2010) Daniela Nitsch et al.   BMC BIOINFORMATICS

A guide to web tools to prioritize candidate genes

(2010) L.-C. Tranchevent et al.   BRIEFINGS IN BIOINFORMATICS

Association between colony-stimulating factor 1 receptor gene polymorphisms and asthma risk

(2010) Eun Kyong Shin et al.   HUMAN GENETICS

IFNG +874 T>A single nucleotide polymorphism is associated with leprosy among Brazilians

(2010) C. C. Cardoso et al.   HUMAN GENETICS

Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12 566 individuals

(2010) Farren B.S. Briggs et al.   HUMAN MOLECULAR GENETICS

TRAF6 promotes atypical ubiquitination of mutant DJ-1 and alpha-synuclein and is localized to Lewy bodies in sporadic Parkinson's disease brains

(2010) Silvia Zucchelli et al.   HUMAN MOLECULAR GENETICS

Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease

(2010) Dermot P.B. McGovern et al.   HUMAN MOLECULAR GENETICS

Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease

(2010) Karin Fransen et al.   HUMAN MOLECULAR GENETICS

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome

(2010) Noriko Miyake et al.   HUMAN MUTATION

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B12

(2010) Edward V. Quadros et al.   HUMAN MUTATION

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

(2010) Stefania Gimelli et al.   HUMAN MUTATION

Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's disease susceptibility loci

(2010) Nobuhisa Mizuki et al.   NATURE GENETICS

Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer

(2010) Clare Turnbull et al.   NATURE GENETICS

Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis

(2010) Gideon M Hirschfield et al.   NATURE GENETICS

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

(2010) Gorica Nikoloski et al.   NATURE GENETICS

A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci

(2010) Jin-Xin Bei et al.   NATURE GENETICS

Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations

(2010) Daiki Miki et al.   NATURE GENETICS

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

(2010) Timothy W Yu et al.   NATURE GENETICS

Genome-wide association study identifies variants in the MHC class I, IL10 and IL23R-IL12RB2 regions associated with Behçet's disease

(2010) Elaine F Remmers et al.   NATURE GENETICS

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

(2010) Tobias B Haack et al.   NATURE GENETICS

A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma

(2010) Christian C Abnet et al.   NATURE GENETICS

Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies a susceptibility locus at PLCE1

(2010) Li-Dong Wang et al.   NATURE GENETICS

WDR62 is associated with the spindle pole and is mutated in human microcephaly

(2010) Adeline K Nicholas et al.   NATURE GENETICS

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS

Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis

(2010) Xiangdong Liu et al.   NATURE GENETICS

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

(2010) Solveig Gretarsdottir et al.   NATURE GENETICS

A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B

(2010) Toshimasa Yamauchi et al.   NATURE GENETICS

Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2

(2010) Eva Ellinghaus et al.   NATURE GENETICS

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis

(2010) Ulrike Hüffmeier et al.   NATURE GENETICS

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

GeneCards Version 3: the human gene integrator

(2010) M. Safran et al.   Database-The Journal of Biological Databases and Curation

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

(2010) Anna Rajab et al.   PLoS Genetics

Comparison of automated candidate gene prediction systems using genes implicated in type 2 diabetes by genome-wide association studies

(2009) Erdahl T Teber et al.   BMC BIOINFORMATICS

Genomewide Association Studies and Human Disease

(2009) John Hardy et al.   NEW ENGLAND JOURNAL OF MEDICINE

PosMed (Positional Medline): prioritizing genes with an artificial neural network comprising medical documents to accelerate positional cloning

(2009) Y. Yoshida et al.   NUCLEIC ACIDS RESEARCH

BioMart Central Portal—unified access to biological data

(2009) Syed Haider et al.   NUCLEIC ACIDS RESEARCH

Linking genes to diseases: it's all in the data

(2009) Nicki Tiffin et al.   Genome Medicine

Integrating Computational Biology and Forward Genetics in Drosophila

(2009) Stein Aerts et al.   PLoS Genetics

Genome-wide prioritization of disease genes and identification of disease-disease associations from an integrated human functional linkage network

(2009) Bolan Linghu et al.   GENOME BIOLOGY

Walking the Interactome for Prioritization of Candidate Disease Genes

(2008) Sebastian Köhler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohort

(2008) Jana V van Vliet-Ostaptchouk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

CANDID: a flexible method for prioritizing candidate genes for complex human traits

(2008) Janna E. Hutz et al.   GENETIC EPIDEMIOLOGY

GeneDistiller—Distilling Candidate Genes from Linkage Intervals

(2008) Dominik Seelow et al.   PLoS One