Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Università degli Studi di Brescia
Brescia, ItaliaPublicacións en colaboración con investigadores/as de Università degli Studi di Brescia (8)
2023
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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Clinical cancer research : an official journal of the American Association for Cancer Research, Vol. 29, Núm. 16, pp. 3037-3050
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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
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
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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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578
2018
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Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation
Stem Cell Research, Vol. 28, pp. 16-20
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Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes: An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group
JCO Precision Oncology, Vol. 2
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