Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia

od Boyden, Lynn M., Craiglow, Brittany G., Zhou, Jing, Hu, Ronghua, Loring, Erin C., Morel, Kimberly D., Lauren, Christine T., Lifton, Richard P., Bilguvar, Kaya, Paller, Amy S., Choate, Keith A.
Izdano u J Invest Dermatol (2014)

Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi

od Levinsohn, Jonathan L., Teng, Joyce, Craiglow, Brittany G., Loring, Erin C., Burrow, T. Andrew, Mane, Shrikant S., Overton, John D., Lifton, Richard P., McNiff, Jennifer M., Lucky, Anne W., Choate, Keith A.
Izdano 2013

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

od Lim, Young H., Ovejero, Diana, Sugarman, Jeffrey S., DeKlotz, Cynthia M.C., Maruri, Ann, Eichenfield, Lawrence F., Kelley, Patrick K., Jüppner, Harald, Gottschalk, Michael, Tifft, Cynthia J., Gafni, Rachel I., Boyce, Alison M., Cowen, Edward W., Bhattacharyya, Nisan, Guthrie, Lori C., Gahl, William A., Golas, Gretchen, Loring, Erin C., Overton, John D., Mane, Shrikant M., Lifton, Richard P., Levy, Moise L., Collins, Michael T., Choate, Keith A.
Izdano 2014