Department of Forensic Science, Pathological Anatomy, Gynaecology and Obstetrics and Paediatrics
Department
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 (83)
2024
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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
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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Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas
Nutrients, Vol. 15, Núm. 16
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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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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
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HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19
HLA, Vol. 102, Núm. 6, pp. 731-739
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Is SARS-COV-2 associated with alpha-1 antitrypsin deficiency?
Journal of Thoracic Disease, Vol. 15, Núm. 2, pp. 711-717
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NAD pool as an antitumor target against cancer stem cells in head and neck cancer
Journal of Experimental and Clinical Cancer Research, Vol. 42, Núm. 1
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Paediatric-onset generalized pustular psoriasis secondary to myeloperoxidase mutations
Clinical and experimental dermatology, Vol. 48, Núm. 2, pp. 130-132
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Psychiatric polygenic risk as a predictor of COVID-19 risk and severity: insight into the genetic overlap between schizophrenia and COVID-19
Translational Psychiatry, Vol. 13, Núm. 1
2022
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An updated view on human neonatal thermogenesis
Nature Reviews Endocrinology
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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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Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood
eLife, Vol. 11
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806