Funded Projects
SFARI Funded Publications
A general framework for estimating the relative pathogenicity of human genetic variants.
Kircher M., Witten D.M., Jain P., O'Roak B., Cooper G., Shendure J.
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Girirajan S., Rosenfeld J.A., Cooper G., Antonacci F., Siswara P., Itsara A., Vives L., Walsh T., McCarthy S.E., Baker C., Mefford H., Kidd J.M., Browning S.R., Browning B.L., Dickel D.E., Levy D.L., Ballif B.C., Platky K., Farber D.M., Gowans G.C., Wetherbee J.J., Asamoah A., Weaver D.D., Mark P.R., Dickerson J., Garg B.P., Ellingwood S.A., Smith R., Banks V.C., Smith W., McDonald M.T., Hoo J.J., French B.N., Hudson C., Johnson J.P., Ozmore J.R., Moeschler J.B., Surti U., Escobar L.F., El-Khechen D., Gorski J.L., Kussmann J., Salbert B., Lacassie Y., Biser A., McDonald-McGinn D.M., Zackai E.H., Deardorff M.A., Shaikh T.H., Haan E., Friend K.L., Fichera M., Romano C., Gécz J., DeLisi L.E., Sebat J., King M-C., Shaffer L.G., Eichler E.
