Journal article

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

Funding Acknowledgements

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.