1. Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia. Issue 1 (20th November 2017) Authors: DeMeo, Natasha N.; Burgess, Jeremy D.; Blackburn, Patrick R.; Gass, Jennifer M.; Richter, John; Atwal, Herjot K.; van Gerpen, Jay A.; Atwal, Paldeep S. Journal: Clinical case reports Issue: Volume 6:Issue 1(2018) Page Start: 8 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expansion of the clinical spectrum associated with AARS2‐related disorders. Issue 8 (17th May 2019) Authors: Srivastava, Siddharth; Butala, Ankur; Mahida, Sonal; Richter, John; Mu, Weiyi; Poretti, Andrea; Vernon, Hilary; VanGerpen, Jay; Atwal, Paldeep S.; Middlebrooks, Erik H.; Zee, David S.; Naidu, SakkuBai Journal: American journal of medical genetics Issue: Volume 179:Issue 8(2019) Page Start: 1556 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗