Publikationen in Zusammenarbeit mit Forschern von Consiglio Nazionale delle Ricerche (9)

2022

  1. Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

    Human Genetics, Vol. 141, Núm. 1, pp. 147-173

  2. Erythrocyte Membrane Nanomechanical Rigidity Is Decreased in Obese Patients

    International Journal of Molecular Sciences, Vol. 23, Núm. 3

2021

  1. Molecular differences based on erythrocyte fatty acid profile to personalize dietary strategies between adults and children with obesity

    Metabolites, Vol. 11, Núm. 1, pp. 1-15

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

2013

  1. Suicidal ideation in a European Huntington's disease population

    Journal of Affective Disorders, Vol. 151, Núm. 1, pp. 248-258

2012

  1. Discrepancies in reporting the CAG repeat lengths for Huntington’s disease

    European Journal of Human Genetics, Vol. 20, Núm. 1, pp. 20-26

2009

  1. Secondary disorders of glycosylation in inborn errors of fructose metabolism

    Journal of Inherited Metabolic Disease, Vol. 32, Núm. SUPPL. 1

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