Publicacions en col·laboració amb investigadors/es de Fundación Jiménez Díaz (23)

2022

  1. Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

    npj Genomic Medicine, Vol. 7, Núm. 1

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  3. Prevalent alms1 pathogenic variants in spanish alström patients

    Genes, Vol. 12, Núm. 2, pp. 1-12

2018

  1. Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

    Scientific Reports, Vol. 8, Núm. 1

2015

  1. Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

    Journal of Medical Genetics, Vol. 52, Núm. 8, pp. 503-513

2014

  1. Overview of Bardet-Biedl syndrome in Spain: Identification of novel mutations in BBS1, BBS10 and BBS12 genes

    Clinical Genetics

2010

  1. Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

    American Journal of Human Genetics, Vol. 86, Núm. 5, pp. 686-695

  2. New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping

    Molecular Vision, Vol. 16, pp. 137-143

2009

  1. Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations

    Investigative Ophthalmology and Visual Science, Vol. 50, Núm. 3, pp. 1065-1068

2007

  1. Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease

    Molecular Vision, Vol. 13, pp. 96-101

  2. Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients

    Investigative Ophthalmology and Visual Science, Vol. 48, Núm. 3, pp. 985-990

2006

  1. Gene symbol: ABCA4. Disease: Stargardt disease 1.

    Human genetics, Vol. 119, Núm. 6, pp. 671

  2. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536.

    Human genetics, Vol. 118, Núm. 6, pp. 777

  3. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538.

    Human genetics, Vol. 118, Núm. 6, pp. 778

  4. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512.

    Human genetics, Vol. 118, Núm. 6, pp. 784

  5. Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: Evidence of a prevalent mutated allele

    Molecular Vision, Vol. 12, pp. 902-908

2005

  1. Clinical and genetic studies in Spanish patients with Usher syndrome type II: Description of new mutations and evidence for a lack of genotype-phenotype correlation

    Clinical Genetics, Vol. 68, Núm. 3, pp. 204-214

  2. Mutations including the promoter region of myocilin/TIGR gene

    European Journal of Human Genetics, Vol. 13, Núm. 3, pp. 384-387

  3. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration

    Molecular Vision, Vol. 11, pp. 922-928