Publications
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
Abstract
The utility of genome sequencing (GS) in the diagnosis of suspected pediatric mitochondrial disease (MD) was investigated.
| Type | Journal |
|---|---|
| ISBN | 1530-0366 |
| Authors | Riley, Lisa G.; Cowley, Mark J.; Gayevskiy, Velimir; Minoche, Andre E.; Puttick, Clare; Thorburn, David R.; Rius, Rocio; Compton, Alison G.; Menezes, Minal J.; Bhattacharya, Kaustuv; Coman, David; Ellaway, Carolyn; Alexander, Ian E.; Adams, Louisa; Kava, Maina; Robinson, Jacqui; Sue, Carolyn M.; Balasubramaniam, Shanti; Christodoulou, John |
| Responsible Garvan Author | (missing name) |
| Publisher Name | GENETICS IN MEDICINE |
| Published Date | 2020-04-21 |
| Status | Published in-print |
| DOI | 10.1038/s41436-020-0793-6 |
| URL link to publisher's version | https://doi.org/10.1038/s41436-020-0793-6 |