Publicacións en colaboración con investigadores/as de Oslo University Hospital (55)

2024

  1. Clustering Schizophrenia Genes by Their Temporal Expression Patterns Aids Functional Interpretation

    Schizophrenia Bulletin, Vol. 50, Núm. 2, pp. 327-338

2023

  1. 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

  2. A second update on mapping the human genetic architecture of COVID-19

    Nature

  3. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

    Nature Genetics, Vol. 55, Núm. 12, pp. 2065-2074

  4. Editorial considerations for publication in Forensic Science International: Genetics

    Forensic Science International: Genetics

  5. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

  6. 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

  7. 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

  1. 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

  2. First international workshop of the ATM and cancer risk group (4-5 December 2019)

    Familial Cancer, Vol. 21, Núm. 2, pp. 211-227

  3. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

    Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842

  4. 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

  5. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

  6. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  7. 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

  8. 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

  1. 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

  2. Breast cancer risk genes - Association analysis in more than 113,000 women

    New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439

  3. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  4. 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