Publicacións en colaboración con investigadores/as de University of Eastern Finland (85)

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. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

    Genome Medicine, Vol. 15, Núm. 1

  3. Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

    Cancer Medicine, Vol. 12, Núm. 15, pp. 16142-16162

  4. Diminishing benefits of urban living for children and adolescents’ growth and development

    Nature, Vol. 615, Núm. 7954, pp. 874-883

  5. Discovery of novel arylpiperazine-based DA/5-HT modulators as potential antipsychotic agents – Design, synthesis, structural studies and pharmacological profiling

    European Journal of Medicinal Chemistry, Vol. 252

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

    Nature communications

  7. Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel

    Journal of Medical Genetics, Vol. 60, Núm. 12, pp. 1186-1197

  8. FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

    European journal of human genetics : EJHG, Vol. 31, Núm. 5, pp. 578-587

  9. Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits

    Nature Communications, Vol. 14, Núm. 1

  10. Global variation in diabetes diagnosis and prevalence based on fasting glucose and hemoglobin A1c

    Nature Medicine, Vol. 29, Núm. 11, pp. 2885-2901

  11. Organotypic Hippocampal Slice Cultures from Adult Tauopathy Mice and Theragnostic Evaluation of Nanomaterial Phospho-TAU Antibody-Conjugates

    Cells, Vol. 12, Núm. 10

  12. PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

    npj Breast Cancer, Vol. 9, Núm. 1

  13. Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

    Cancers, Vol. 15, Núm. 13

  14. The impact of coding germline variants on contralateral breast cancer risk and survival

    American Journal of Human Genetics, Vol. 110, Núm. 3, pp. 475-486

  15. Vitamin D status and supplementation before and after Bariatric Surgery: Recommendations based on a systematic review and meta-analysis

    Reviews in Endocrine and Metabolic Disorders, Vol. 24, Núm. 6, pp. 1011-1029