Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Madrid, EspañaPublicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria del Hospital Universitario La Paz (24)
2024
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An Insertion Within SIRPβ1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response
Journal of Alzheimer's Disease, Vol. 98, Núm. 2, pp. 601-618
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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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Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry
Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264
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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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Identification of copy-number variants in patients with overgrowth disorders
Clinical Genetics
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Meta-analysis of genome-wide association studies for cancer therapy-related cardiovascular dysfunction and functional mapping highlight an intergenic region close to TP63
Scientific Reports, Vol. 14, Núm. 1
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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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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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Genetic testing in focal segmental glomerulosclerosis: in whom and when?
Clinical Kidney Journal, Vol. 16, Núm. 11, pp. 2011-2022
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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
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SARS-CoV-2 infection in children with cystic fibrosis: A cross-sectional multicenter study in Spain. New waves, new knowledge
Pediatric Pulmonology, Vol. 58, Núm. 11, pp. 3195-3205
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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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