Publicacións en colaboración con investigadores/as de Aarhus University Hospital (56)

2024

  1. Comparison of the ABC and ACMG systems for variant classification

    European Journal of Human Genetics

  2. Exploring low clozapine C/D ratios, inverted clozapine-norclozapine ratios and undetectable concentrations as measures of non-adherence in clozapine patients: A literature review and a case series of 17 patients from 3 studies

    Schizophrenia Research, Vol. 268, pp. 293-301

2023

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

    Nature

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

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

  3. Clozapine ultrarapid metabolism during weak induction probably exists but requires careful diagnosis. A literature review, five new cases and a proposed definition

    Schizophrenia Research

  4. 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

  5. Large-scale meta-genome-wide association study reveals common genetic factors linked to radiation-induced acute toxicities across cancer types

    JNCI Cancer Spectrum, Vol. 7, Núm. 6

2022

  1. A genome-wide association study of radiotherapy induced toxicity in head and neck cancer patients identifies a susceptibility locus associated with mucositis

    British Journal of Cancer, Vol. 126, Núm. 7, pp. 1082-1090

  2. 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

  3. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    Communications biology, Vol. 5, Núm. 1, pp. 1061

  4. Meta-GWAS identifies the heritability of acute radiation-induced toxicities in head and neck cancer

    Radiotherapy and Oncology, Vol. 176, pp. 138-148

  5. 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

2021

  1. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

    Nature Communications, Vol. 12, Núm. 1

  2. A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer

    Prostate, Vol. 81, Núm. 10, pp. 683-693

  3. 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

  4. Erratum: Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (Nature communications (2021) 12 1 (1078))

    Nature communications

  5. Polygenic hazard score is associated with prostate cancer in multi-ethnic populations

    Nature Communications, Vol. 12, Núm. 1

  6. Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (Nature Genetics, (2021), 53, 1, (65-75), 10.1038/s41588-020-00748-0)

    Nature Genetics

  7. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

    Genetics in Medicine, Vol. 23, Núm. 9, pp. 1726-1737

  8. Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

    Nature Genetics, Vol. 53, Núm. 1, pp. 65-75