publication venue for
- An ACVR1 R375P pathogenic variant in two families with mild fibrodysplasia ossificans progressiva. 188:806-817. 2022
- Speech difficulties and patient health communication mediating effects on worry and healthârelated quality of life in children, adolescents, and young adults with Neurofibromatosis Type 1. 179:1476-1482. 2019
- FGFR-associated craniosynostosis syndromes and gastrointestinal defects.. 170:3215-3221. 2016
- Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients.. 167A:2265-2271. 2015
- Evaluation of SLC35A3 as a candidate gene for human vertebral malformations.. 140:1346-1348. 2006
- Lay people's understanding of and preference against the word "mutation".. 130A:245-250. 2004