Publications in collaboration with researchers from Children's Hospital of Philadelphia (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