Publicacións en colaboración con investigadores/as de Royal Children's Hospital (2)

2019

  1. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

    npj Breast Cancer, Vol. 5, Núm. 1

2017

  1. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

    American Journal of Human Genetics, Vol. 101, Núm. 6, pp. 985-994