Publikationen in Zusammenarbeit mit Forschern von University of Genoa (7)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

2019

  1. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    Nature Communications, Vol. 10, Núm. 1

  2. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

2017

  1. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

    Journal of Inherited Metabolic Disease, Vol. 40, Núm. 1, pp. 21-48

2015

  1. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

    Nature Genetics, Vol. 47, Núm. 6, pp. 579-581

2014

  1. The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics

    Electrophoresis, Vol. 35, Núm. 21-22, pp. 3134-3144

2013

  1. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study

    Pediatrics, Vol. 131, Núm. 6