Department of Forensic Science, Pathological Anatomy, Gynaecology and Obstetrics and Paediatrics
Department
Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Madrid, EspañaPublications in collaboration with researchers from Instituto de Investigación Sanitaria del Hospital Universitario La Paz (28)
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))
Nature communications
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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-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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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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A genome-wide association study of survival in patients with sepsis
Critical Care, Vol. 26, Núm. 1
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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Risk scores for Kawasaki disease, a management tool developed by the KAWA-RACE cohort
Clinical Rheumatology, Vol. 41, Núm. 12, pp. 3759-3768
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Severity of COVID-19 attributable to obesity according to BMI and CUN-BAE
Semergen, Vol. 48, Núm. 8, pp. 6
2021
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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Nature communications, Vol. 12, Núm. 1, pp. 3417
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Interferon-Gamma Release Assays Differentiate between Mycobacterium avium Complex and Tuberculous Lymphadenitis in Children
Journal of Pediatrics, Vol. 236, pp. 211-218.e2
2019
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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)
Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751
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Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)
Nature Genetics
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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626
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Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment
Journal of Clinical Medicine, Vol. 8, Núm. 11
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Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Nature Genetics, Vol. 51, Núm. 3, pp. 414-430
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Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
European Journal of Human Genetics, Vol. 27, Núm. 4, pp. 556-562
2018
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Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG
Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413