Appadurai, V., DeBarber, A., Chiang, P., Patel, S. B., Steiner, R. D., Tyler, C., & Bonnen, P. E. (2015). Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. Mol Genet Metab.

Appadurai, Vivek, Andrea DeBarber, Pei-Wen Chiang, Shailendra B. Patel, Robert D. Steiner, Charles Tyler, ja Penelope E. Bonnen. "Apparent Underdiagnosis of Cerebrotendinous Xanthomatosis Revealed By Analysis of ~60,000 Human Exomes." Mol Genet Metab 2015.

Appadurai, Vivek, et al. "Apparent Underdiagnosis of Cerebrotendinous Xanthomatosis Revealed By Analysis of ~60,000 Human Exomes." Mol Genet Metab 2015.