@article {1066,
	title = {A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.},
	journal = {Neuromuscular disorders : NMD},
	volume = {24},
	number = {8},
	year = {2014},
	month = {2014 May 9},
	pages = {660-5},
	abstract = {Hereditary recurrent neuropathies are uncommon. Disorders with a known molecular basis falling within this group include hereditary neuropathy with liability to pressure palsies (HNPP) due to the deletion of the PMP22 gene or to mutations in this same gene, and hereditary neuralgic amyotrophy (HNA) caused by mutations in the SEPT9 gene. We report a three-generation family presenting a hereditary recurrent neuropathy without pathological changes in either PMP22 or SEPT9 genes. We performed a genome-wide mapping, which yielded a locus of 12.4Mb on chromosome 21q21. The constructed haplotype fully segregated with the disease and we found significant evidence of linkage. After mutational screening of genes located within this locus, encoding for proteins and microRNAs, as well as analysis of large deletions/insertions, we identified 71 benign polymorphisms. Our findings suggest a novel genetic locus for a recurrent hereditary neuropathy of which the molecular defect remains elusive. Our results further underscore the clinical and genetic heterogeneity of this group of neuropathies.},
	issn = {1873-2364},
	doi = {10.1016/j.nmd.2014.04.004},
	url = {http://www.sciencedirect.com/science/article/pii/S0960896614001060$\#$},
	author = {Calpena, E and Mart{\'\i}nez-Rubio, D and Arpa, J and Garc{\'\i}a-Pe{\~n}as, J J and Montaner, D. and Dopazo, J. and Palau, F and Espin{\'o}s, C}
}
@inbook {680,
	title = {New Trends in the Analysis of Functional Genomic Data},
	booktitle = {Progress in Industrial Mathematics at ECMI 2006},
	volume = {12},
	year = {2007},
	pages = {576-580},
	publisher = {Springer},
	organization = {Springer},
	address = {Berlin},
	issn = {978-3-540-71991-5},
	doi = {10.1007/978-3-540-71992-2_94},
	url = {http://www.springerlink.com/content/m62p07r8111004vr/},
	author = {Montaner, D. and Fatima Al-Shahrour and Dopazo, J.}
}
@article {16845056,
	title = {Next station in microarray data analysis: GEPAS},
	journal = {Nucleic Acids Res},
	volume = {34},
	year = {2006},
	note = {<p>Montaner, David Tarraga, Joaquin Huerta-Cepas, Jaime Burguet, Jordi Vaquerizas, Juan M Conde, Lucia Minguez, Pablo Vera, Javier Mukherjee, Sach Valls, Joan Pujana, Miguel A G Alloza, Eva Herrero, Javier Al-Shahrour, Fatima Dopazo, Joaquin Research Support, Non-U.S. Gov{\textquoteright}t England Nucleic acids research Nucleic Acids Res. 2006 Jul 1;34(Web Server issue):W486-91.</p>},
	pages = {W486-91},
	abstract = {<p>The Gene Expression Profile Analysis Suite (GEPAS) has been running for more than four years. During this time it has evolved to keep pace with the new interests and trends in the still changing world of microarray data analysis. GEPAS has been designed to provide an intuitive although powerful web-based interface that offers diverse analysis options from the early step of preprocessing (normalization of Affymetrix and two-colour microarray experiments and other preprocessing options), to the final step of the functional annotation of the experiment (using Gene Ontology, pathways, PubMed abstracts etc.), and include different possibilities for clustering, gene selection, class prediction and array-comparative genomic hybridization management. GEPAS is extensively used by researchers of many countries and its records indicate an average usage rate of 400 experiments per day. The web-based pipeline for microarray gene expression data, GEPAS, is available at http://www.gepas.org.</p>},
	keywords = {gepas, microarray data analysis},
	url = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve\&db=PubMed\&dopt=Citation\&list_uids=16845056},
	author = {Montaner, D. and Tarraga, J. and Huerta-Cepas, J. and Burguet, J. and Vaquerizas, J. M. and L. Conde and Minguez, P. and Vera, J. and Mukherjee, S. and Valls, J. and Pujana, M. A. and Alloza, E. and Herrero, J. and Fatima Al-Shahrour and Dopazo, J.}
}
