Publicacións en colaboración con investigadores/as de Helmholtz Zentrum München (11)

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

    Genome Medicine, Vol. 15, Núm. 1

  4. 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

2022

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

    Genome Medicine, Vol. 14, Núm. 1

2021

  1. 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

  2. Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

    Scientific Reports, Vol. 11, Núm. 1

2019

  1. Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen

    Nature Communications, Vol. 10, Núm. 1

  2. Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4)

    Nature Communications

  3. Shared heritability and functional enrichment across six solid cancers

    Nature Communications, Vol. 10, Núm. 1

2014

  1. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

    Nature Genetics, Vol. 46, Núm. 8, pp. 826-836