Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (14)

2024

  1. A genome-wide association study meta-analysis in a European sample of stage III/IV grade C periodontitis patients ≤35 years of age identifies new risk loci

    Journal of Clinical Periodontology, Vol. 51, Núm. 4, pp. 431-440

  2. Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

    Communications biology, Vol. 7, Núm. 1, pp. 202

  3. High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures

    International Journal of Molecular Sciences, Vol. 25, Núm. 4

  4. The impact of genetic variations in the serotonergic system on symptom severity and clinical outcome in functional neurological disorders

    Journal of Psychosomatic Research, Vol. 186

2023

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

    Nature

  2. Erratum: Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 (Nature (2023) 617 7962 (764-768))

    Nature

  3. GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

    Nature, Vol. 617, Núm. 7962, pp. 764-768

  4. Influence of Genetic Polymorphisms on the Short-Term Response to Ranibizumab in Patients With Neovascular Age-Related Macular Degeneration

    Investigative ophthalmology & visual science, Vol. 64, Núm. 13, pp. 34

  5. Psychiatric polygenic risk as a predictor of COVID-19 risk and severity: insight into the genetic overlap between schizophrenia and COVID-19

    Translational Psychiatry, Vol. 13, Núm. 1

2022

  1. How Executive Functions Correlate with Intelligence in Children and Adolescents in Autism Spectrum Disorders

    Journal of Cognition and Development, Vol. 23, Núm. 5, pp. 776-790

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2015

  1. Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations

    International Journal of Cancer, Vol. 137, Núm. 8, pp. 1870-1878

2012

  1. Characterization of single nucleotide polymorphisms of cytochrome P450 in an Australian deceased sample

    Current Drug Metabolism, Vol. 13, Núm. 5, pp. 679-692

  2. Cognitive functioning in children and adults with Smith-Magenis syndrome

    European Journal of Medical Genetics, Vol. 55, Núm. 6-7, pp. 394-399