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Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome

Nurun Nahar Borna, Yoshihito Kishita, Masakazu Kohda, Sze Chern Lim, Masaru Shimura, Yibo Wu, Kaoru Mogushi, Yukiko Yatsuka, Hiroko Harashima, Yuichiro Hisatomi,

Neurogenetics · 2019 · 63 citations · 38 references

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38

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible

Damian Szklarczyk, John H. Morris, Helen Cook et al. · Nucleic Acids Research · 2016 · 7.4K citations · Full text

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2016 update of the PRIDE database and its related tools

Juan Antonio Vizcaíno, Attila Csordás, Noemí del‐Toro et al. · Nucleic Acids Research · 2015 · 3.7K citations · Full text

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Ensembl 2018

Daniel R. Zerbino, Premanand Achuthan, Wasiu Akanni et al. · Nucleic Acids Research · 2017 · 2.8K citations · Full text

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Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A

Han G. Brunner, Marcel Nelen, Xandra O. Breakefield et al. · Science · 1993 · 1.6K citations

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