Genética
Servicio
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (45)
2024
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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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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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Novel risk loci for COVID-19 hospitalization among admixed American populations
eLife, Vol. 13
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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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Role of CYP2D6 and CYP3A4 polymorphisms on aripiprazole and dehydroaripiprazole concentrations in patients undergoing long-acting treatment
Progress in Neuro-Psychopharmacology and Biological Psychiatry, Vol. 135
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Sensory processing, executive function, and behavior in children with ADHD
Child Neuropsychology
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Towards precision medicine of long-acting aripiprazole through population pharmacokinetic modelling
Psychiatry Research, Vol. 333
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
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Genome Medicine, Vol. 15, Núm. 1
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Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk (Nature Genetics, (2023), 55, 9, (1435-1439), 10.1038/s41588-023-01466-z)
Nature Genetics
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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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Clozapine ultrarapid metabolism during weak induction probably exists but requires careful diagnosis. A literature review, five new cases and a proposed definition
Schizophrenia Research
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Comparing symptom reporting by prostate cancer patients and healthcare professionals in the international multicentre REQUITE study
Radiotherapy and Oncology, Vol. 178
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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