Publicaciones en colaboración con investigadores/as de University of Naples Federico II (6)

2024

  1. The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

    Orphanet Journal of Rare Diseases , Vol. 19, Núm. 1

2019

  1. Combined Analysis of Methylation and Gene Expression Profiles in Separate Compartments of Small Bowel Mucosa Identified Celiac Disease Patients’ Signatures

    Scientific Reports, Vol. 9, Núm. 1

2014

  1. Celiac disease in the Mediterranean area

    BMC Gastroenterology, Vol. 14, Núm. 1

  2. Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant

    Human Molecular Genetics, Vol. 23, Núm. 9, pp. 2481-2489

  3. Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

    Gut, Vol. 63, Núm. 3, pp. 415-422

2011

  1. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

    Nature Genetics, Vol. 43, Núm. 12, pp. 1193-1201