selected publications
-
academic article
- Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy.. American journal of medical genetics. Part A. :-. 2015
- Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.. American journal of human genetics. 94:734-744. 2014
- Limb hyperplasia: case report of an unusual variant of Klippel-Trenaunay syndrome and review of the literature.. Cutis; cutaneous medicine for the practitioner. 83:255-262. 2009
- Risk for leukemia in infants without Down syndrome who have transient myeloproliferative disorder.. The Journal of pediatrics. 148:687-689. 2006
- Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals.. American journal of medical genetics. Part A. 124A:158-164. 2004