Publicacións en colaboración con investigadores/as de Hospital de la Santa Creu i Sant Pau (21)

2021

  1. Spread of a SARS-CoV-2 variant through Europe in the summer of 2020

    Nature, Vol. 595, Núm. 7869, pp. 707-712

  2. The first wave of the COVID-19 epidemic in Spain was associated with early introductions and fast spread of a dominating genetic variant

    Nature Genetics, Vol. 53, Núm. 10, pp. 1405-1414

2014

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

    Clinical Genetics

2010

  1. 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. 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. 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. 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

2001

  1. Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families

    Ophthalmic Genetics, Vol. 22, Núm. 1, pp. 19-25

2000

  1. Mutations in the third exon of the MYOC gene in Spanish patients with primary open angle glaucoma

    Ophthalmic Genetics, Vol. 21, Núm. 2, pp. 109-115

1998

  1. Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families

    Ophthalmic Genetics, Vol. 19, Núm. 4, pp. 197-202

  2. Identificación de dos mutaciones alélicas en el gen de la subunidad beta de la fosfodiesterasa en una familia española afectada de retinosis pigmentaria autosómica recesiva

    Medicina Clinica, Vol. 111, Núm. 11, pp. 420-422

1997

  1. Putative association of a mutant ROM1 allele with retinitis pigmentosa

    Human Genetics, Vol. 99, Núm. 6, pp. 827-830

1996

  1. A novel mutation in exon 17 of the β-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family

    Human Genetics, Vol. 97, Núm. 1, pp. 35-38

  2. Autosomal recessive retinitis pigmentosa in Spain: Evaluation of four genes and two loci involved in the disease

    Clinical Genetics, Vol. 50, Núm. 5, pp. 380-387

  3. Identificación de la mutación Arg-135-Leu en el gen de la rodopsina en una familia con retinosis pigmentaria autosómica dominante

    Medicina Clinica, Vol. 106, Núm. 6, pp. 219-221

  4. Identification of a novel R552Q mutation in exon 13 of the β-subunit of rod phosphodiesterase gene in a spanish family with autosomal recessive retinitis pigmentosa

    Human Mutation, Vol. 8, Núm. 4, pp. 393-394

1995

  1. Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

    Human Genetics, Vol. 96, Núm. 1, pp. 89-94

  2. Homozygous tandem duplication within the gene encoding the β‐subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa

    Human Mutation, Vol. 5, Núm. 3, pp. 228-234