Publications in collaboration with researchers from Helmholtz Zentrum München (17)

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. 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

  2. Shared heritability and functional enrichment across six solid cancers

    Nature Communications, Vol. 10, Núm. 1

2018

  1. Telomeres in germ line and early embryo: An overview

    Reproductomics: The -Omics Revolution and Its Impact on Human Reproductive Medicine (Elsevier), pp. 77-90

2017

  1. The Rb1 tumour suppressor gene modifies telomeric chromatin architecture by regulating TERRA expression

    Scientific Reports, Vol. 7

2014

  1. A Rb1 promoter variant with reduced activity contributes to osteosarcoma susceptibility in irradiated mice

    Molecular Cancer, Vol. 13, Núm. 1

2013

  1. Rb1 haploinsufficiency promotes telomere attrition and radiation-induced genomic instability

    Cancer Research, Vol. 73, Núm. 14, pp. 4247-4255

2012

  1. Secondary radiation-induced bone tumours demonstrate a high degree of genomic instability predictive of a poor prognosis

    Current Genomics, Vol. 13, Núm. 6, pp. 433-437

2011

  1. Differential effects of genes of the Rb1 signalling pathway on osteosarcoma incidence and latency in alpha-particle irradiated mice

    Radiation and Environmental Biophysics, Vol. 50, Núm. 1, pp. 135-141

  2. Erratum: Differential effects of genes of the Rb1 signalling pathway on osteosarcoma incidence and latency in alpha-particle-irradiated mice (Radiation and Environmental Biophysics DOI:10.1007/s00411-010-0339-4)

    Radiation and Environmental Biophysics

  3. Impact of protein tyrosine kinase 6 (PTK6) on human epidermal growth factor receptor (HER) signalling in breast cancer

    Molecular BioSystems, Vol. 7, Núm. 5, pp. 1603-1612