Nuria Lopez-Bigas

A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.

Connexin mutations in hearing loss, dermatological and neurological disorders.

Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea.

Beyond 100 genomes.

Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea.

Genome-wide identification of genes likely to be involved in human genetic disease.

Are splicing mutations the most frequent cause of hereditary disease?

CoGenT++: an extensive and extensible data environment for computational genomics.

Expansion of the BioCyc collection of pathway/genome databases to 160 genomes.

Highly consistent patterns for inherited human diseases at the molecular level.

Structural and functional properties of genes involved in human cancer.

Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes.

Differences in the evolutionary history of disease genes affected by dominant or recessive mutations.

A partially supervised classification approach to dominant and recessive human disease gene prediction.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.

On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees.

Functional protein divergence in the evolution of Homo sapiens.

Distinct patterns in the regulation and evolution of human cancer genes.

SNP and haplotype mapping for genetic analysis in the rat.

Prioritization of candidate cancer genes--an aid to oncogenomic studies.

Genome-wide analysis of the H3K4 histone demethylase RBP2 reveals a transcriptional program controlling differentiation.

Patterns of evolutionary constraints on genes in humans.

Biological convergence of cancer signatures.

Jagged1 is the pathological link between Wnt and Notch pathways in colorectal cancer.

An oligo-based microarray offers novel transcriptomic approaches for the analysis of pathogen resistance and fruit quality traits in melon (Cucumis melo L.).

IntOGen: integration and data mining of multidimensional oncogenomic data.

Whole genome analysis of p38 SAPK-mediated gene expression upon stress.

International network of cancer genome projects.

Transcriptional activation of polycomb-repressed genes by ZRF1.

Selective targeting of histone methylation.

Cooperation between dE2F1 and Yki/Sd defines a distinct transcriptional program necessary to bypass cell cycle exit.

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

Gitools: analysis and visualisation of genomic data using interactive heat-maps.

mir-11 limits the proapoptotic function of its host gene, dE2f1.

Co-regulation of histone-modifying enzymes in cancer.

Integrative cancer genomics (IntOGen) in Biomart.

BioMart Central Portal: an open database network for the biological community.

SVGMap: configurable image browser for experimental data.