Mechanistic Phenotypes: An Aggregative Phenotyping Strategy to Identify Disease Mechanisms Using GWAS Data

The Electronic Medical Records and Genomics (eMERGE) Network: past, present and future

(2013) Omri Gottesman et al.   GENETICS IN MEDICINE

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

(2013)   LANCET

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

(2013) Molly C. Kottemann et al.   NATURE

A Two-Stage Evaluation of Genetic Variation in Immune and Inflammation Genes with Risk of Non-Hodgkin Lymphoma Identifies New Susceptibility Locus in 6p21.3 Region

(2012) J. R. Cerhan et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

PinX1 Localizes to Telomeres and Stabilizes TRF1 at Mitosis

(2012) T. Yonekawa et al.   MOLECULAR AND CELLULAR BIOLOGY

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

(2012) Thorlakur Jonsson et al.   NATURE

A low-frequency variant at 8q24.21 is strongly associated with risk of oligodendroglial tumors and astrocytomas with IDH1 or IDH2 mutation

(2012) Robert B Jenkins et al.   NATURE GENETICS

Chapter 9: Analyses Using Disease Ontologies

(2012) Nigam H. Shah et al.   PLoS Computational Biology

The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies

(2011) Catherine A McCarty et al.   BMC Medical Genomics

Hallmarks of Cancer: The Next Generation

(2011) Douglas Hanahan et al.   CELL

Translationally controlled tumor protein induces mitotic defects and chromosome missegregation in hepatocellular carcinoma development

(2011) Tim Hon Man Chan et al.   HEPATOLOGY

The pleiotropic structure of the genotype–phenotype map: the evolvability of complex organisms

(2011) Günter P. Wagner et al.   NATURE REVIEWS GENETICS

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

(2010) J. C. Denny et al.   BIOINFORMATICS

Genomic instability — an evolving hallmark of cancer

(2010) Simona Negrini et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Human SLX4 Is a Holliday Junction Resolvase Subunit that Binds Multiple DNA Repair/Recombination Endonucleases

(2009) Samira Fekairi et al.   CELL

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Development of a Large-Scale De-Identified DNA Biobank to Enable Personalized Medicine

(2008) DM Roden et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Bivariate association analyses for the mixture of continuous and binary traits with the use of extended generalized estimating equations

(2008) Jianfeng Liu et al.   GENETIC EPIDEMIOLOGY

Inherited Susceptibility to Common Cancers

(2008) William D. Foulkes   NEW ENGLAND JOURNAL OF MEDICINE

Pleiotropy and principal components of heritability combine to increase power for association analysis

(2007) Lambertus Klei et al.   GENETIC EPIDEMIOLOGY