Publikationen in Zusammenarbeit mit Forschern von Centro de Biología Molecular Severo Ochoa (6)

2021

  1. The first wave of the COVID-19 epidemic in Spain was associated with early introductions and fast spread of a dominating genetic variant

    Nature Genetics, Vol. 53, Núm. 10, pp. 1405-1414

2019

  1. A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 3, pp. 407-413

2017

  1. Building Bridges through Science

    Neuron

2016

  1. Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria

    Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744

2014

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

    Clinical Genetics

2013

  1. Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain

    Journal of Human Genetics, Vol. 58, Núm. 5, pp. 279-284