Jennifer J. Johnston
Genetic Disease Research Branch
National Human Genome Research Institute
National Institutes of Health
Bethesda
USA
Name/email consistency: high
- Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Johnston, J.J., Sapp, J.C., Turner, J.T., Amor, D., Aftimos, S., Aleck, K.A., Bocian, M., Bodurtha, J.N., Cox, G.F., Curry, C.J., Day, R., Donnai, D., Field, M., Fujiwara, I., Gabbett, M., Gal, M., Graham, J.M., Hedera, P., Hennekam, R.C., Hersh, J.H., Hopkin, R.J., Kayserili, H., Kidd, A.M., Kimonis, V., Lin, A.E., Lynch, S.A., Maisenbacher, M., Mansour, S., McGaughran, J., Mehta, L., Murphy, H., Raygada, M., Robin, N.H., Rope, A.F., Rosenbaum, K.N., Schaefer, G.B., Shealy, A., Smith, W., Soller, M., Sommer, A., Stalker, H.J., Steiner, B., Stephan, M.J., Tilstra, D., Tomkins, S., Trapane, P., Tsai, A.C., Van Allen, M.I., Vasudevan, P.C., Zabel, B., Zunich, J., Black, G.C., Biesecker, L.G. Hum. Mutat. (2010)
- Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Johnston, J.J., Olivos-Glander, I., Killoran, C., Elson, E., Turner, J.T., Peters, K.F., Abbott, M.H., Aughton, D.J., Aylsworth, A.S., Bamshad, M.J., Booth, C., Curry, C.J., David, A., Dinulos, M.B., Flannery, D.B., Fox, M.A., Graham, J.M., Grange, D.K., Guttmacher, A.E., Hannibal, M.C., Henn, W., Hennekam, R.C., Holmes, L.B., Hoyme, H.E., Leppig, K.A., Lin, A.E., Macleod, P., Manchester, D.K., Marcelis, C., Mazzanti, L., McCann, E., McDonald, M.T., Mendelsohn, N.J., Moeschler, J.B., Moghaddam, B., Neri, G., Newbury-Ecob, R., Pagon, R.A., Phillips, J.A., Sadler, L.S., Stoler, J.M., Tilstra, D., Walsh Vockley, C.M., Zackai, E.H., Zadeh, T.M., Brueton, L., Black, G.C., Biesecker, L.G. Am. J. Hum. Genet. (2005)
