Medicina Xenómica
GMX - USC
Instituto de Investigación Sanitaria La Fe
Valencia, EspañaPublicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria La Fe (16)
2024
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A genome-wide association meta-analysis of all-cause and vascular dementia
Alzheimer's and Dementia, Vol. 20, Núm. 9, pp. 5973-5995
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Clinical and Genetic Analysis of Patients With TK2 Deficiency
Neurology: Genetics, Vol. 10, Núm. 2
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Novel risk loci for COVID-19 hospitalization among admixed American populations
eLife, Vol. 13
2023
2022
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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
Clinical genetics, Vol. 101, Núm. 5-6, pp. 481-493
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2021
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CSVS, a crowdsourcing database of the Spanish population genetic variability
Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137
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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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Long runs of homozygosity are associated with Alzheimer’s disease
Translational Psychiatry, Vol. 11, Núm. 1
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Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
Genes, Vol. 12, Núm. 5
2020
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Paleogenetic evidence of a Pyrenean Neolithic family: Kinship, physical appearance and biogeography multidisciplinary analysis
Journal of Archaeological Science, Vol. 123
2019
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Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project
Alzheimer's and Dementia, Vol. 15, Núm. 10, pp. 1333-1347
2017
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Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection
International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219
2015
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Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer
Genetics in Medicine, Vol. 17, Núm. 2, pp. 131-142
2014
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New genes emerging for colorectal cancer predisposition
World Journal of Gastroenterology, Vol. 20, Núm. 8, pp. 1961-1971