Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Oslo University Hospital
Oslo, NoruegaPublicacións en colaboración con investigadores/as de Oslo University Hospital (55)
2024
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Clustering Schizophrenia Genes by Their Temporal Expression Patterns Aids Functional Interpretation
Schizophrenia Bulletin, Vol. 50, Núm. 2, pp. 327-338
2023
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A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2
Human Mutation, Vol. 2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
Nature Genetics, Vol. 55, Núm. 12, pp. 2065-2074
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Editorial considerations for publication in Forensic Science International: Genetics
Forensic Science International: Genetics
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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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Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry
American Journal of Human Genetics, Vol. 110, Núm. 7, pp. 1200-1206
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The relationship between genetic liability, childhood maltreatment, and IQ: findings from the EU-GEI multicentric case–control study
Social Psychiatry and Psychiatric Epidemiology, Vol. 58, Núm. 10, pp. 1573-1580
2022
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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach
Human Mutation, Vol. 43, Núm. 12, pp. 1921-1944
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First international workshop of the ATM and cancer risk group (4-5 December 2019)
Familial Cancer, Vol. 21, Núm. 2, pp. 211-227
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Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842
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Meta-analysis of epigenome-wide association studies in newborns and children show widespread sex differences in blood DNA methylation
Mutation Research - Reviews in Mutation Research, Vol. 789
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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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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score
Prostate cancer and prostatic diseases, Vol. 25, Núm. 4, pp. 755-761
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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
Genetics in Medicine, Vol. 24, Núm. 1, pp. 119-129
2021
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Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer
Prostate Cancer and Prostatic Diseases, Vol. 24, Núm. 2, pp. 532-541
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Breast cancer risk genes - Association analysis in more than 113,000 women
New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439
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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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Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
American Journal of Human Genetics, Vol. 108, Núm. 7, pp. 1190-1203