ZFIN Person: Engle, Elizabeth

ZFIN ID: ZDB-PERS-170531-1

Engle, Elizabeth

Email:	elizabeth.engle@childrens.harvard.edu
URL:	http://kirbyneuro.org/EngleLab/.
Affiliation:	Engle Lab
Address:	Boston Children's Hospital Neurology / Engle Lab, CLS14075, BCH3149 3 Blackfan Circle Boston, MA 02115
Country:	United States
Phone:	617-919-2751
Fax:	6177304834
ORCID ID:

BIOGRAPHY AND RESEARCH INTERESTS

PUBLICATIONS

Frints, S.G.M., Hennig, F., Colombo, R., Jacquemont, S., Terhal, P., Zimmerman, H.H., Hunt, D., Mendelsohn, B.A., Kordaß, U., Webster, R., Sinnema, M., Abdul-Rahman, O., Suckow, V., Deciphering Developmental Disorders (DDD) Study, Fernández-Jaén, A., van Roozendaal, K., Stevens, S.J.C., Macville, M.V.E., Al-Nasiry, S., van Gassen, K., Utzig, N., Koudijs, S.M., McGregor, L., Maas, S.M., Baralle, D., Dixit, A., Wieacker, P., Lee, M., Lee, A.S., Engle, E.C., Houge, G., Gradek, G.A., Douglas, A.G.L., Longman, C., Joss, S., Velasco, D., Hennekam, R.C., Hirata, H., Kalscheuer, V.M. (2019) Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation. 40(12):2270-2285

Di Gioia, S.A., Connors, S., Matsunami, N., Cannavino, J., Rose, M.F., Gilette, N.M., Artoni, P., de Macena Sobreira, N.L., Chan, W.M., Webb, B.D., Robson, C.D., Cheng, L., Van Ryzin, C., Ramirez-Martinez, A., Mohassel, P., Leppert, M., Scholand, M.B., Grunseich, C., Ferreira, C.R., Hartman, T., Hayes, I.M., Morgan, T., Markie, D.M., Fagiolini, M., Swift, A., Chines, P.S., Speck-Martins, C.E., Collins, F.S., Jabs, E.W., Bönnemann, C.G., Olson, E.N., Carey, J.C., Robertson, S.P., Manoli, I., Engle, E.C. (2017) A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature communications. 8:16077

NON-ZEBRAFISH PUBLICATIONS