Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease
Ahmad Alodaib, Nara Sobreira, Wendy A Gold, Lisa G Riley, Nicole J Van Bergen, Meredith J Wilson, Bruce Bennetts, David R Thorburn, Corinne Boehm, John Christodoulou
European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2017
Awarded by Australian NHMRC
Awarded by NHGRI
Awarded by NATIONAL HUMAN GENOME RESEARCH INSTITUTE
This work was supported by a scholarship to A Alodaib provided by the Academic and Training Affairs at King Faisal Specialist Hospital and Research Center and the Ministry of Higher Education (Riyadh, Saudi Arabia). This research was supported by Australian NHMRC Grant 1026891 (to JC), an NHMRC Principal Research Fellowship (to DRT) and an NHGRI Grant 1U54HG006542. Finally, we also gratefully acknowledge donations to JC by the Crane and Perkins families.