1. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. Issue 2 (21st November 2015) Authors: Hale, Caitlin L.; Niederriter, Adrienne N.; Green, Glenn E.; Martin, Donna M. Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 344 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Response to correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. Issue 12 (21st March 2016) Authors: Hale, Caitlin L.; Niederriter, Adrienne N.; Green, Glenn E.; Martin, Donna M. Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3367 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗