Fundación Pública Galega de Medicina Xenómica
Research center
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (105)
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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The impact of genetic variations in the serotonergic system on symptom severity and clinical outcome in functional neurological disorders
Journal of Psychosomatic Research, Vol. 186
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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