Last Posted: Dec 22, 2022
- Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.
Mavraki Eleni et al. European journal of human genetics : EJHG 2022 - Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken William L et al. Nature communications 2022 11 (1) 6324 - Clinical implementation of RNA sequencing for Mendelian disease diagnostics
VA Yepez et al, Genome Medicine, April 5, 2022 - Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon Katherine R et al. BMJ (Clinical research ed.) 2021 375e066288 - The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
Kose Melis et al. Journal of pediatric endocrinology & metabolism : JPEM 2021 - Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study.
Vignal-Clermont Catherine et al. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 2021 Feb - Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.
Stenton Sarah L et al. EBioMedicine 2020 May 56102784 - Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.
Shen Lishuang et al. Clinics in laboratory medicine 2020 Jun 40(2) 149-161 - Resolving complexity in mitochondrial disease: Towards precision medicine.
Boggan Róisín M et al. Molecular genetics and metabolism 128(1-2) 19-29 - The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley Lisa G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr
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