<style face="normal" font="default" size="100%">A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.</style>

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<style face="normal" font="default" size="100%">A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.</style>

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<style face="normal" font="default" size="100%">CSVS, a crowdsourcing database of the Spanish population genetic variability.</style>

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<style face="normal" font="default" size="100%">Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.</style>

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<style face="normal" font="default" size="100%">Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.</style>

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<style face="normal" font="default" size="100%">Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.</style>

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<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>

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<style face="normal" font="default" size="100%">Pathways systematically associated to Hirschsprung's disease.</style>

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<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>

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<style face="normal" font="default" size="100%">Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.</style>

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<style face="normal" font="default" size="100%">Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.</style>