- Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease. Tartaglia, M., Martinelli, S., Stella, L., Bocchinfuso, G., Flex, E., Cordeddu, V., Zampino, G., Burgt, I., Palleschi, A., Petrucci, T.C., Sorcini, M., Schoch, C., Foa, R., Emanuel, P.D., Gelb, B.D. Am. J. Hum. Genet. (2006)