Publicacións en colaboración con investigadores/as de Fundación Jiménez Díaz (8)

2022

  1. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    Clinical genetics, Vol. 101, Núm. 5-6, pp. 481-493

2014

  1. FAS system deregulation in T-cell lymphoblastic lymphoma

    Cell Death and Disease, Vol. 5, Núm. 3

  2. Involvement of LCA5 in leber congenital amaurosis and retinitis pigmentosa in the Spanish population

    Ophthalmology, Vol. 121, Núm. 1, pp. 399-407

2013

  1. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

    Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082

2010

  1. Association study of 44 candidate genes with depressive and anxiety symptoms in post-partum women

    Journal of Psychiatric Research, Vol. 44, Núm. 11, pp. 717-724

2009

  1. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 150, Núm. 6, pp. 808-816

2003

  1. Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

    Human Mutation, Vol. 22, Núm. 4, pp. 301-312

  2. Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations

    European Journal of Human Genetics