Nuria Lopez-Bigas

Research Unit on Biomedical Informatics, Universitat Pompeu Fabra

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 13	2010

Other Publications

Article	Year
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families. Human mutation\| PubMed ID: 11933201	2002
Connexin mutations in hearing loss, dermatological and neurological disorders. Trends in molecular medicine\| PubMed ID: 12067629	2002
Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea. Gene expression patterns : GEP\| PubMed ID: 12617848	2002
Beyond 100 genomes. Genome biology\| PubMed ID: 12734008	2003
Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea. Mechanisms of development\| PubMed ID: 14516671	2002
Genome-wide identification of genes likely to be involved in human genetic disease. Nucleic acids research\| PubMed ID: 15181176	2004
Are splicing mutations the most frequent cause of hereditary disease? FEBS letters\| PubMed ID: 15792793	2005
CoGenT++: an extensive and extensible data environment for computational genomics. Bioinformatics (Oxford, England)\| PubMed ID: 16216832	2005
Expansion of the BioCyc collection of pathway/genome databases to 160 genomes. Nucleic acids research\| PubMed ID: 16246909	2005
Highly consistent patterns for inherited human diseases at the molecular level. Bioinformatics (Oxford, England)\| PubMed ID: 16287936	2006
Structural and functional properties of genes involved in human cancer. BMC genomics\| PubMed ID: 16405732	2006
Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes. Nucleic acids research\| PubMed ID: 16757574	2006
Differences in the evolutionary history of disease genes affected by dominant or recessive mutations. BMC genomics\| PubMed ID: 16817963	2006
A partially supervised classification approach to dominant and recessive human disease gene prediction. Computer methods and programs in biomedicine\| PubMed ID: 17258838	2007
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature\| PubMed ID: 17571346	2007
On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees. Genome biology\| PubMed ID: 17971225	2007
Functional protein divergence in the evolution of Homo sapiens. Genome biology\| PubMed ID: 18279504	2008
Distinct patterns in the regulation and evolution of human cancer genes. In silico biology\| PubMed ID: 18430988	2008
SNP and haplotype mapping for genetic analysis in the rat. Nature genetics\| PubMed ID: 18443594	2008
Prioritization of candidate cancer genes--an aid to oncogenomic studies. Nucleic acids research\| PubMed ID: 18710882	2008
Genome-wide analysis of the H3K4 histone demethylase RBP2 reveals a transcriptional program controlling differentiation. Molecular cell\| PubMed ID: 18722178	2008
Patterns of evolutionary constraints on genes in humans. BMC evolutionary biology\| PubMed ID: 18840274	2008
Biological convergence of cancer signatures. PloS one\| PubMed ID: 19229342	2009
Jagged1 is the pathological link between Wnt and Notch pathways in colorectal cancer. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 19325125	2009
An oligo-based microarray offers novel transcriptomic approaches for the analysis of pathogen resistance and fruit quality traits in melon (Cucumis melo L.). BMC genomics\| PubMed ID: 19821986	2009
IntOGen: integration and data mining of multidimensional oncogenomic data. Nature methods\| PubMed ID: 20111033	2010
Whole genome analysis of p38 SAPK-mediated gene expression upon stress. BMC genomics\| PubMed ID: 20187982	2010
International network of cancer genome projects. Nature\| PubMed ID: 20393554	2010
Transcriptional activation of polycomb-repressed genes by ZRF1. Nature\| PubMed ID: 21179169	2010
Selective targeting of histone methylation. Cell cycle (Georgetown, Tex.)\| PubMed ID: 21270517	2011
Cooperation between dE2F1 and Yki/Sd defines a distinct transcriptional program necessary to bypass cell cycle exit. Genes & development\| PubMed ID: 21325133	2011
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. American journal of human genetics\| PubMed ID: 21457909	2011
Gitools: analysis and visualisation of genomic data using interactive heat-maps. PloS one\| PubMed ID: 21602921	2011
mir-11 limits the proapoptotic function of its host gene, dE2f1. Genes & development\| PubMed ID: 21856777	2011
Co-regulation of histone-modifying enzymes in cancer. PloS one\| PubMed ID: 21886846	2011
Integrative cancer genomics (IntOGen) in Biomart. Database : the journal of biological databases and curation\| PubMed ID: 21903633	2011
BioMart Central Portal: an open database network for the biological community. Database : the journal of biological databases and curation\| PubMed ID: 21930507	2011
SVGMap: configurable image browser for experimental data. Bioinformatics (Oxford, England)\| PubMed ID: 22034520	2012