1. A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings. Issue 7 (9th May 2016) Authors: Wallis, Mathew J.; Kelly, Amanda L.; Peters, Gregory B.; St Heaps, Luke; Nandini, Adayapalam; McGaughran, Julie M. Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1930 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X‐inactivation utilizing case‐parent trio SNP microarray analysis. Issue 3 (28th February 2018) Authors: Mason, Jane A.; Aung, Hnin T.; Nandini, Adayapalam; Woods, Rickie G.; Fairbairn, David J.; Rowell, John A.; Young, David; Susman, Rachel D.; Brown, Simon A.; Hyland, Valentine J.; Robertson, Jeremy D. Journal: Molecular genetics & genomic medicine Issue: Volume 6:Issue 3(2018) Page Start: 357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗