Yamamoto, Shinya

Glial Lipid Droplets and ROS Induced by Mitochondrial Defects Promote Neurodegeneration

Liu, L., Zhang, K., Sandoval, H., Yamamoto, S., Jaiswal, M., Sanz, E., Li, Z., Hui, J., Graham, B. H., Quintana, A., et al. (2015) · Cell

Autophagy in Disease and TherapyMitochondrial Function and Pathology

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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Splinter, K., Adams, D. R., Bacino, C. A., Bellen, H. J., Bernstein, J. A., Cheatle-Jarvela, A. M., Eng, C. M., Esteves, C., Gahl, W. A., Hamid, R., et al. (2018) · New England Journal of Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 359

Loss-or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms

Chung, H.-L., Wangler, M. F., Marcogliese, P. C., Jo, J., Ravenscroft, T. A., Zuo, Z., Duraine, L., Sadeghzadeh, S., Li-Kroeger, D., Schmidt, R. E., et al. (2020) · Neuron

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 154

The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit

Zhang, K., Li, Z., Jaiswal, M., Bayat, V., Xiong, B., Sandoval, H., Charng, W.-L., David, G., Haueter, C., Yamamoto, S., et al. (2013) · Journal of Cell Biology

Mitochondrial Function and PathologyHeat shock proteins research

Cited by 58

AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders

Mao, D., Liu, C., Wang, L., AI-Ouran, R., Deisseroth, C., Pasupuleti, S., Kim, S. Y., Li, L., Rosenfeld, J. A., Meng, L., et al. (2024) · NEJM AI

Genomics and Rare DiseasesArtificial Intelligence in Healthcare and Education

Cited by 51

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27

TM2D genes regulate Notch signaling and neuronal function in Drosophila

Salazar, J. L., Yang, S.-A., Lin, Y. Q., Li-Kroeger, D., Marcogliese, P. C., Deal, S. L., Neely, G. G., & Yamamoto, S. (2021) · PLOS Genetics

Developmental Biology and Gene RegulationAlzheimer's disease research and treatments

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