Publications in collaboration with researchers from University of Otago (3)

2019

  1. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: An ENIGMA report

    Journal of Medical Genetics, Vol. 56, Núm. 7, pp. 453-460

  2. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

    Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578

2015

  1. Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers

    Cancer Epidemiology Biomarkers and Prevention, Vol. 24, Núm. 1, pp. 308-316