Publicacións en colaboración con investigadores/as de Mount Sinai Hospital (63)

2024

  1. SUMOylation modulates eIF5A activities in both yeast and pancreatic ductal adenocarcinoma cells

    Cellular and Molecular Biology Letters, Vol. 29, Núm. 1

2023

  1. A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry

    Breast cancer research : BCR, Vol. 25, Núm. 1, pp. 93

  2. 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

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

    Nature

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

    Genome Medicine, Vol. 15, Núm. 1

  5. 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

  6. Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival

    Journal of Clinical Oncology, Vol. 41, Núm. 10, pp. 1849-1863

  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. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

    British Journal of Cancer, Vol. 128, Núm. 12, pp. 2283-2294

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

    npj Breast Cancer, Vol. 9, Núm. 1

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

    Cancers, Vol. 15, Núm. 13

  12. 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

2022

  1. Breast cancer risks associated with missense variants in breast cancer susceptibility genes

    Genome Medicine, Vol. 14, Núm. 1

  2. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

    Journal of Clinical Oncology, Vol. 40, Núm. 14, pp. 1529-1541

  3. Common variants in breast cancer risk loci predispose to distinct tumor subtypes

    Breast Cancer Research, Vol. 24, Núm. 1

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

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

  5. Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))

    European journal of human genetics : EJHG

  6. Incorporating progesterone receptor expression into the PREDICT breast prognostic model

    European Journal of Cancer, Vol. 173, pp. 178-193

  7. Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

    Nature Genetics, Vol. 54, Núm. 9, pp. 1275-1283