Fundación Pública Galega de Medicina Xenómica
Centro de investigación
National Health Service
Londres, Reino UnidoPublicacións en colaboración con investigadores/as de National Health Service (6)
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
2018
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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
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Treated incidence of psychotic disorders in the multinational EU-GEI study
JAMA Psychiatry, Vol. 75, Núm. 1, pp. 36-46
2017
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Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
Nature Communications, Vol. 8
2014
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Synaptic, transcriptional and chromatin genes disrupted in autism
Nature, Vol. 515, Núm. 7526, pp. 209-215
2010
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Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk
Nature Genetics, Vol. 42, Núm. 2, pp. 132-136