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. Blake's pouch cyst in 13q deletion syndrome: Posterior fossa malformations may occur due to disruption of multiple genes. Issue 9 (7th July 2017) Authors: Myers, Kenneth A.; Wallis, Mathew J.; Fitt, Gregory J.; Sarnat, Harvey B.; Newton, Mark R. Journal: American journal of medical genetics Issue: Volume 173:Issue 9(2017) Page Start: 2442 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. Issue 1 (7th May 2022) Authors: Barbier, Mathieu; Bahlo, Melanie; Pennisi, Alessandra; Jacoupy, Maxime; Tankard, Rick M.; Ewenczyk, Claire; Davies, Kayli C.; Lino‐Coulon, Patricia; Colace, Claire; Rafehi, Haloom; Auger, Nicolas; Ansell, Brendan R. E.; van der Stelt, Ivo; Howell, Katherine B.; Coutelier, Marie; Amor, David J.; M... Journal: Annals of neurology Issue: Volume 92:Issue 1(2022) Page Start: 122 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗