Publications in collaboration with researchers from Consiglio Nazionale delle Ricerche (3)

2014

  1. Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

    Bone, Vol. 59, pp. 122-126

  2. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

    Clinical Genetics

2007

  1. Associated anomalies in multi-malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries

    American Journal of Medical Genetics, Part A, Vol. 143, Núm. 6, pp. 528-537