Drupal-Biblio17<style face="normal" font="default" size="100%">A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">CSVS, a crowdsourcing database of the Spanish population genetic variability.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system developmentAbstractBackgroundResultsConclusionsGraphic abstract</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes</style>Drupal-Biblio17<style face="normal" font="default" size="100%">267 Spanish exomes reveal population-specific differences in disease-related genetic variation.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The role of the interactome in the maintenance of deleterious variability in human populations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Pathways systematically associated to Hirschsprung’s disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Pathways systematically associated to Hirschsprung's disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung’s disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A map of human microRNA variation uncovers unexpectedly high levels of variability.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.</style>