Schmidts, M., Y. Hou, C. R. Cortés, D. A. Mans, C. Huber, K. Boldt, M. Patel, et al. 2015. “TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.” Nature Communications 6 (1): 7074. doi:10.1038/ncomms8074. http://dx.doi.org/10.1038/ncomms8074.