Medicina Xenómica
GMX - USC
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Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (61)
2024
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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
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CARTAR: a comprehensive web tool for identifying potential targets in chimeric antigen receptor therapies using TCGA and GTEx data
Briefings in Bioinformatics, Vol. 25, Núm. 4
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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
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Clustering Schizophrenia Genes by Their Temporal Expression Patterns Aids Functional Interpretation
Schizophrenia Bulletin, Vol. 50, Núm. 2, pp. 327-338
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Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children
The Journal of experimental medicine, Vol. 221, Núm. 2
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Population-based detection of children ASD/ADHD comorbidity from atypical sensory processing
Applied Intelligence
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Towards precision medicine of long-acting aripiprazole through population pharmacokinetic modelling
Psychiatry Research, Vol. 333
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Unveiling the Significance of HLA and KIR Diversity in Underrepresented Populations
Biomedicines, Vol. 12, Núm. 6
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Utility of polygenic risk scores to aid in the diagnosis of rheumatic diseases
Best Practice and Research: Clinical Rheumatology
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Worldwide distribution of genetic factors related to severity of COVID-19 infection
Annals of Human Biology, Vol. 51, Núm. 1
2023
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A crowdsourcing database for the copy-number variation of the Spanish population
Human Genomics, Vol. 17, Núm. 1
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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
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A second update on mapping the human genetic architecture of COVID-19
Nature
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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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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
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Erratum: Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 (Nature (2023) 617 7962 (764-768))
Nature
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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
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GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
Nature, Vol. 617, Núm. 7962, pp. 764-768
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HLA alleles: important pieces to the COVID-19 puzzle
Trends in Immunology