Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (49)

2023

  1. A crowdsourcing database for the copy-number variation of the Spanish population

    Human Genomics, Vol. 17, Núm. 1

  2. A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry

    Breast cancer research : BCR, Vol. 25, Núm. 1, pp. 93

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

    Nature

  4. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

    Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5

  5. Deletion of the CYP2D6 gene as a likely explanation for the serious side effects of the antipsychotic drug pimozide: a case report

    Frontiers in Pharmacology, Vol. 14

  6. Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing

    Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113

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

    Nature

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

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

  9. HLA alleles: important pieces to the COVID-19 puzzle

    Trends in Immunology

  10. HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19

    HLA, Vol. 102, Núm. 6, pp. 731-739

  11. Is SARS-COV-2 associated with alpha-1 antitrypsin deficiency?

    Journal of Thoracic Disease, Vol. 15, Núm. 2, pp. 711-717

  12. NAD pool as an antitumor target against cancer stem cells in head and neck cancer

    Journal of Experimental and Clinical Cancer Research, Vol. 42, Núm. 1

  13. 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. Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood

    eLife, Vol. 11

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

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

  4. Severity of COVID-19 attributable to obesity according to BMI and CUN-BAE

    Semergen, Vol. 48, Núm. 8, pp. 6

  5. The early-life exposome modulates the effect of polymorphic inversions on DNA methylation

    Communications Biology, Vol. 5, Núm. 1

2021

  1. CSVS, a crowdsourcing database of the Spanish population genetic variability

    Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137

  2. Genetic susceptibility to CRC

    Foundations of Colorectal Cancer (Elsevier), pp. 513-518