Chakraborty, Pranesh K.

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Chakraborty, P. K., Schmitz-Abe, K., Kennedy, E. K., Mamady, H., Naas, T., Durie, D., Campagna, D. R., Lau, A., Sendamarai, A. K., Wiseman, D. H., et al. (2014) · Blood

Iron Metabolism and DisordersRNA and protein synthesis mechanisms

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DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

Care4Rare Consortium, Vanstone, J. R., Smith, A. M., McBride, S., Naas, T., Holcik, M., Antoun, G., Harper, M.-E., Michaud, J., Sell, E., et al. (2016) · European Journal of Human Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

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Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., et al. (2002) · Human Mutation

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

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