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List of works by Javier Santoyo-Lopez

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

scientific article

A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

scientific article published on 01 August 2018

An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort

scientific article published on 29 July 2019

Assessing differential expression measurements by highly parallel pyrosequencing and DNA microarrays: a comparative study.

scientific article published on 15 September 2011

Assessing technical performance in differential gene expression experiments with external spike-in RNA control ratio mixtures

scientific article

Characterization of a mammalian homolog of the GCN2 eukaryotic initiation factor 2alpha kinase

scientific article

Class-specific immune response to Yersinia enterocolitica serotype O9 antigens as determined by enzyme-linked immunosorbent assay.

scientific article published on June 1991

Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family

scientific article

Discrete clusters of virus-encoded micrornas are associated with complementary strands of the genome and the 7.2-kilobase stable intron in murine cytomegalovirus

scientific article (publication date: December 2007)

Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).

scientific article

GEPAS: A web-based resource for microarray gene expression data analysis

scientific article

Highly specific and accurate selection of siRNAs for high-throughput functional assays

scientific article published on 10 December 2004

Initial genomics of the human nucleolus

scientific article published in March 2010

Localization, structure and expression of the gene for translation initiation factor eIF-4E from Drosophila melanogaster.

scientific article

Modeling and managing experimental data using FuGE.

scientific article

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

scientific article

Mutational landscape of a chemically-induced mouse model of liver cancer

scientific article published on 26 June 2018

PAX4 preserves endoplasmic reticulum integrity preventing beta cell degeneration in a mouse model of type 1 diabetes mellitus.

scientific article published on 26 January 2016

Pervasive lesion segregation shapes cancer genome evolution

scientific article published on 24 June 2020

Phylogenomics and the number of characters required for obtaining an accurate phylogeny of eukaryote model species

scientific article published in August 2004

Promoting coherent minimum reporting guidelines for biological and biomedical investigations: the MIBBI project

scientific article (publication date: August 2008)

PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level.

scientific article published on July 2004

Statistical methods for analysis of high-throughput RNA interference screens

scientific article

The eIF-2alpha kinases and the control of protein synthesis

scientific article published on October 1996

The role of the interactome in the maintenance of deleterious variability in human populations

scientific article

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa

scientific article

ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing.

scientific article published on 26 February 2014

poRe: an R package for the visualization and analysis of nanopore sequencing data

scientific article

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