1. Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion. Issue 9 (25th July 2017) Authors: Chaudhry, Ayeshah; Chung, Brian H.; Stavropoulos, Dimitri J.; Araya, Marcela P.; Ali, Asim; Heon, Elise; Chitayat, David Journal: American journal of medical genetics Issue: Volume 173:Issue 9(2017) Page Start: 2467 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement. (22nd June 2015) Authors: Chaudhry, Ayeshah; Sabatini, Peter; Han, Liping; Ray, Peter N.; Forrest, Christopher; Bowdin, Sarah Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2544 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Whole exome sequencing identified 1 base pair novel deletion in BCL2‐associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members. Issue 3 (March 2017) Authors: Rafiq, Muhammad Arshad; Chaudhry, Ayeshah; Care, Melanie; Spears, Danna A.; Morel, Chantal F.; Hamilton, Robert M. Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 699 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Whole exome sequencing identified 1 base pair novel deletion in BCL2‐associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members. Issue 3 (17th February 2017) Authors: Rafiq, Muhammad Arshad; Chaudhry, Ayeshah; Care, Melanie; Spears, Danna A.; Morel, Chantal F.; Hamilton, Robert M. Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 699 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗