Publicacións en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (56)

2025

  1. Genome-wide association study of susceptibility to acute respiratory distress syndrome

    eBioMedicine, Vol. 120

  2. Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients

    Biomedicines, Vol. 13, Núm. 3

  3. The Spanish Polygenic Score reference distribution: a resource for personalized medicine

    European Journal of Human Genetics

2024

  1. Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases

    Journal of Clinical Medicine, Vol. 13, Núm. 11

  2. Meta-analysis of genome-wide association studies for cancer therapy-related cardiovascular dysfunction and functional mapping highlight an intergenic region close to TP63

    Scientific Reports, Vol. 14, Núm. 1

  3. Patient With Relapsing Polychondritis and Cutaneous Nodules Being Followed by the Hematology Department for a Myelodysplastic Syndrome

    Actas Dermo-Sifiliograficas, Vol. 115, Núm. 3, pp. 301-302

2023

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

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

  2. 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

  3. Development and evaluations of the ancestry informative markers of the VISAGE Enhanced Tool for Appearance and Ancestry

    Forensic Science International: Genetics, Vol. 64

  4. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders

    Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306

  5. Patient With Relapsing Polychondritis and Cutaneous Nodules Being Followed by the Hematology Department for a Myelodysplastic Syndrome

    Actas Dermo-Sifiliograficas

  6. Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN)

    International Journal of Dermatology

2022

  1. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

    Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842

  2. 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

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

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

  4. Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability

    European Journal of Human Genetics, Vol. 30, Núm. 8, pp. 938-945

2021

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

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

  2. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  3. Development and evaluation of the ancestry informative marker panel of the visage basic tool

    Genes, Vol. 12, Núm. 8

  4. From neural stem cells to glioblastoma: A natural history of GBM recapitulated in vitro

    Journal of Cellular Physiology, Vol. 236, Núm. 11, pp. 7390-7404