Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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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 (104)
2024
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A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
Journal of Molecular Diagnostics, Vol. 26, Núm. 1, pp. 17-28
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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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Developments in pharmacogenetics, pharmacogenomics, and personalized medicine
Pharmacological Research, Vol. 200
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Exploring low clozapine C/D ratios, inverted clozapine-norclozapine ratios and undetectable concentrations as measures of non-adherence in clozapine patients: A literature review and a case series of 17 patients from 3 studies
Schizophrenia Research, Vol. 268, pp. 293-301
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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149
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High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures
International Journal of Molecular Sciences, Vol. 25, Núm. 4
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Identification of copy-number variants in patients with overgrowth disorders
Clinical Genetics
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Population-based detection of children ASD/ADHD comorbidity from atypical sensory processing
Applied Intelligence, Vol. 54, Núm. 20, pp. 9906-9923
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SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
Database : the journal of biological databases and curation, Vol. 2024
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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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(Pre)treatment risk factors for late fatigue and fatigue trajectories following radiotherapy for breast cancer
International Journal of Cancer, Vol. 153, Núm. 9, pp. 1579-1591
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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 likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2
Human Mutation, Vol. 2023