1. A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome2. Issue 11 (14th August 2014) Authors: Seoighe, Deirdre Máire; Gadancheva, Veselina; Regan, Regina; McDaid, Jennifer; Brenner, Clare; Ennis, Sean; Betts, David Richard; Eadie, Patricia Anne; Lynch, Sally Ann Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2958 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation. Issue 1 (24th October 2016) Authors: O'Byrne, James J.; Ryan, Helen; Murray, Dylan J.; Regan, Regina; Betts, David R.; Murphy, Nuala; Casey, Jillian P.; Lynch, Sally A. Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: 274 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cover Image, Volume 173A, Number 1, January 2017. Issue 1 (January 2017) Authors: O'Byrne, James J.; Ryan, Helen; Murray, Dylan J.; Regan, Regina; Betts, David R.; Murphy, Nuala; Casey, Jillian P.; Lynch, Sally A. Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗