Login / Signup

Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.

Ryan L DavisKishore Raj KumarClare PuttickChristina LiangKate E AhmadFabienne Edema-HildebrandJin-Sung ParkAndre E MinocheVelimir GayevskiyAmali C MallawaarachchiJohn ChrisodoulouDeborah SchofieldMarcel E DingerMark J CowleyCarolyn M Sue
Published in: Neurology (2022)
Comprehensive bigenomic sequencing accurately detects causative genetic variants in affected MD patients, simplifying diagnosis, enabling early treatment, and informing the risk of genetic transmission.
Keyphrases