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Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome

Thomas Johnstone, Jennifer Wang, Daron L. Ross, Nicholas Balanda, Yan Huang, Rena A. Godfrey, Catherine Groden, Brandon Barton, William A. Gahl, Camilo Toro,

Molecular Genetics and Metabolism · 2020 · 11 citations · 17 references

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17

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang et al. · Cell · 2008 · 2K citations · Full text

, , +12

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

S. Rahman, Rozanne B. Blok, H H Dahl et al. · Annals of Neurology · 1996 · 780 citations

, , +17

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita et al. · PLoS Genetics · 2016 · 305 citations · Full text

, , +17

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

William A. Gahl, Thomas C. Markello, Camilo Toro et al. · Genetics in Medicine · 2012 · 293 citations · Full text

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