1. Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features. Issue 12 (26th November 2018) Authors: Sajan, Samin A; Ganesh, Jaya; Shinde, Deepali N; Powis, Zöe; Scarano, Maria I; Stone, Jennifer; Winter, Susan; Tang, Sha Journal: Journal of medical genetics Issue: Volume 56:Issue 12(2019) Page Start: 850 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. (5th October 2017) Authors: Peng, Yanyan; Shinde, Deepali N; Valencia, C Alexander; Mo, Jun-Song; Rosenfeld, Jill; Truitt Cho, Megan; Chamberlin, Adam; Li, Zhuo; Liu, Jie; Gui, Baoheng; Brockhage, Rachel; Basinger, Alice; Alvarez-Leon, Brenda; Heydemann, Peter; Magoulas, Pilar L; Lewis, Andrea M; Scaglia, Fernando; Gril, So... Journal: Human molecular genetics Issue: Volume 26:Number 24(2017:Dec. 15) Page Start: 4937 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗