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Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease

Jing Wang, Jorune Balciuniene, Maria Alejandra Diaz‐Miranda, Elizabeth M. McCormick, Erfan Aref-Eshghi, Alison M. Muir, Kajia Cao, Juliana Troiani, Alicia Moseley, Zhiqian Fan,

Molecular Genetics and Metabolism · 2021 · 29 citations · 30 references

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References

30

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

Yiping He, Jian Wu, Devin Dressman et al. · Nature · 2010 · 530 citations

, , +12

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Agnès Rötig, Stéphane Blanche, Jean‐Paul Bonnefont et al. · Journal of Clinical Investigation · 1990 · 472 citations · Full text

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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

John P. Grady, Sarah J. Pickett, Yi Shiau Ng et al. · EMBO Molecular Medicine · 2018 · 288 citations · Full text

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Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

Elizabeth M. McCormick, Marie T. Lott, Matthew C. Dulik et al. · Human Mutation · 2020 · 188 citations · Full text

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Comprehensive One-Step Molecular Analyses of Mitochondrial Genome by Massively Parallel Sequencing

Victor Wei Zhang, Hong Cui, Lee‐Jun C. Wong · Clinical Chemistry · 2012 · 185 citations · Full text

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