Fundación Pública Galega de Medicina Xenómica
Centro de investigación
University of Turin
Turín, ItaliaPublicacións en colaboración con investigadores/as de University of Turin (9)
2023
2022
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New insights into the genetic etiology of Alzheimer's disease and related dementias
Nature genetics, Vol. 54, Núm. 4, pp. 412-436
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Nature Genetics, Vol. 54, Núm. 9, pp. 1320-1331
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
2019
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Nature Communications, Vol. 10, Núm. 1
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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 767-773
2016
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A European spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics
PLoS ONE, Vol. 11, Núm. 9
2014
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The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics
Electrophoresis, Vol. 35, Núm. 21-22, pp. 3134-3144