Publicacións en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (66)

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. Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

    BMC Pediatrics, Vol. 24, Núm. 1

  3. 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

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. Paediatric-onset generalized pustular psoriasis secondary to myeloperoxidase mutations

    Clinical and experimental dermatology, Vol. 48, Núm. 2, pp. 130-132

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

  5. Genetic susceptibility to periodontal disease in down syndrome: A case-control study

    International Journal of Molecular Sciences, Vol. 22, Núm. 12

  6. Genomic characterization of host factors related to SARS-CoV-2 infection in people with dementia and control populations: The GR@ACE/DEGESCO study

    Journal of Personalized Medicine, Vol. 11, Núm. 12

  7. Identification of Novel Regulators of Zalcitabine-Induced Neuropathic Pain

    ACS Chemical Neuroscience, Vol. 12, Núm. 14, pp. 2619-2628

  8. Liquid biopsy biomarkers for immunotherapy in non-small cell lung carcinoma: Lessons learned and the road ahead

    Journal of Personalized Medicine, Vol. 11, Núm. 10