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David J. Pagliarini, Sarah E. Calvo, Betty Chang, +13

Cell

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Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

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Science Translational Medicine

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

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Nature Genetics

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Analysis of RAS gene mutations in acute myeloid leukemia by polymerase chain reaction and oligonucleotide probes.

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Proceedings of the National Academy of Sciences

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Cytochrome <i>c</i> oxidase deficiency in leigh syndrome

Salvatore DiMauro, Serenella Servidei, Massimo Zeviani, +8

Annals of Neurology

Seventy-five genetic loci influencing the human red blood cell

Pim van der Harst, Weihua Zhang, Irene Mateo Leach, +188

Nature

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Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

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The American Journal of Human Genetics

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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Cornelia Kornblum, Thomas J. Nicholls, Tobias B. Haack, +22

Nature Genetics

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miR-451 protects against erythroid oxidant stress by repressing 14-3-3ζ

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Genes & Development

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

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The American Journal of Human Genetics

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