Publicacións en colaboración con investigadores/as de Consiglio Nazionale delle Ricerche (4)

2022

  1. Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

    Nature Genetics, Vol. 54, Núm. 9, pp. 1275-1283

2018

  1. Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes: An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group

    JCO Precision Oncology, Vol. 2

2015

  1. BRCA1 Circos: A visualisation resource for functional analysis of missense variants

    Journal of Medical Genetics, Vol. 52, Núm. 4, pp. 224-230

2010

  1. Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy

    Diabetic Medicine, Vol. 27, Núm. 10, pp. 1178-1187