

Funded Projects
SFARI Funded Publications
Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly.
Chai G., Webb A., Li C., Antaki D., Lee S., Breuss M.W., Lang N., Stanley V., Anzenberg P., Yang X., Marshall T., Gaffney P., Wierenga K.J., Chung B.H., Tsang M.H., Pais L.S., Lovgren A.K., VanNoy G.E., Rehm H.L., Mirzaa G., Leon E., Diaz J., Neumann A., Kalverda A.P., Manfield I.W., Parry D.A., Logan C.V., Johnson C.A., Bonthron D.T., Valleley E.M.A., Issa M.Y., Abdel-Ghafar S.F., Abdel-Hamid M.S., Jennings P., Zaki M.S., Sheridan E., Gleeson J.
Temporal stability of human sperm mosaic mutations results in life-long threat of transmission to offspring.
Yang X., Breuss M.W., Xu X., Antaki D., James K.N., Stanley V., Ball L.L., George R.D., Wirth S.A., Cao B., Nguyen A., McEvoy-Venneri J., Chai G., Nahas S., Van Der Kraan L., Ding Y., Sebat J., Gleeson J.
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
Wang L., Li Z., Sievert D., Smith D.E.C., Mendes M.I., Chen D.Y., Stanley V., Ghosh S., Wang Y., Kara M., Aslanger A.D., Rosti R.O., Houlden H., Salomons G.S., Gleeson J.