Publicacións en colaboración con investigadores/as de Instituto de Biomedicina de Valencia (9)

2023

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

    Nature

  2. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency

    Journal of Inherited Metabolic Disease, Vol. 46, Núm. 6, pp. 1170-1185

  3. Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease

    European Journal of Neurology, Vol. 30, Núm. 4, pp. 861-871

2021

  1. Spread of a SARS-CoV-2 variant through Europe in the summer of 2020

    Nature, Vol. 595, Núm. 7869, pp. 707-712

  2. 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

2015

  1. Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

    Brain

  2. Lack of GDAP1 Induces Neuronal Calcium and Mitochondrial Defects in a Knockout Mouse Model of Charcot-Marie-Tooth Neuropathy

    PLoS Genetics, Vol. 11, Núm. 4

2010

  1. p19ARF Deficiency Reduces Macrophage and Vascular Smooth Muscle Cell Apoptosis and Aggravates Atherosclerosis

    Journal of the American College of Cardiology, Vol. 55, Núm. 20, pp. 2258-2268

2008

  1. Los defectos del ciclo de la urea en el neonato: Una urgencia vital

    Revista Espanola de Pediatria, Vol. 64, Núm. 2, pp. 158-162