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Paper Details

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Genet Med
45
2020
MD, disease genes, mitochondrial, mitochondrial DNA, mitochondrial DNA variants, mitochondrial disease, mtDNA, parent blood, patient, patients
Author NameAffiliation
Mark J CowleyKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research
Mark J CowleyChildren's Cancer Institute & School of Women's and Children's Health, University of New South Wales
David R ThorburnMurdoch Children's Research Institute
David R ThorburnUniversity of Melbourne
David R ThorburnVictorian Clinical Genetics Services
Alison G ComptonMurdoch Children's Research Institute
John ChristodoulouGenetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead
John ChristodoulouUniversity of Sydney
John ChristodoulouMurdoch Children's Research Institute
John ChristodoulouVictorian Clinical Genetics Services
John ChristodoulouUniversity of Melbourne
John ChristodoulouSydney Medical School, University of Sydney
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