Department of Forensic Science, Pathological Anatomy, Gynaecology and Obstetrics and Paediatrics
Department
Fundación Pública Galega de Medicina Xenómica
Santiago de Compostela, EspañaPublications in collaboration with researchers from Fundación Pública Galega de Medicina Xenómica (50)
2023
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BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis
Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5
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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
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Development and evaluations of the ancestry informative markers of the VISAGE Enhanced Tool for Appearance and Ancestry
Forensic Science International: Genetics, Vol. 64
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Paediatric-onset generalized pustular psoriasis secondary to myeloperoxidase mutations
Clinical and experimental dermatology, Vol. 48, Núm. 2, pp. 130-132
2022
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Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842
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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
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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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
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CSVS, a crowdsourcing database of the Spanish population genetic variability
Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137
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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Nature communications, Vol. 12, Núm. 1, pp. 3417
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Development and evaluation of the ancestry informative marker panel of the visage basic tool
Genes, Vol. 12, Núm. 8
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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
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Genetic susceptibility to periodontal disease in down syndrome: A case-control study
International Journal of Molecular Sciences, Vol. 22, Núm. 12
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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
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Identification of Novel Regulators of Zalcitabine-Induced Neuropathic Pain
ACS Chemical Neuroscience, Vol. 12, Núm. 14, pp. 2619-2628
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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
2020
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Broadening the Applicability of a Custom Multi-Platform Panel of Microhaplotypes: Bio-Geographical Ancestry Inference and Expanded Reference Data
Frontiers in Genetics, Vol. 11
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Building a custom large-scale panel of novel microhaplotypes for forensic identification using MiSeq and Ion S5 massively parallel sequencing systems
Forensic Science International: Genetics, Vol. 45
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Immortalization of a cell line with neural stem cell characteristics derived from mouse embryo brain
Developmental Dynamics, Vol. 249, Núm. 1, pp. 112-124
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Longitudinal analysis on parasite diversity in honeybee colonies: new taxa, high frequency of mixed infections and seasonal patterns of variation
Scientific Reports, Vol. 10, Núm. 1