Funded Projects
SFARI Funded Publications
Transmission disequilibrium of small CNVs in simplex autism.
Krumm N., O'Roak B., Karakoc E., Mohajeri K., Nelson B., Vives L., Jacquemont S., Munson J., Bernier R., Eichler E.
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
O'Roak B., Vives L., Fu W., Egertson J.D., Stanaway I.B., Phelp, I.G., Carvill G., Kumar A., Lee C. C., Ankenman K., Munson J., Hiatt J.B., Turner E.H., Levy R., O'Day D.R., Krumm N., Coe B.P., Martin B.K., Borenstein E., Nickerson D.A., Mefford H., Doherty D., Akey J.M., Bernier R., Eichler E., Shendure J.
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Noor A., Whibley A., Marshall C.R., Gianakopoulos P.J., Piton A., Carson A.R., Orlic-Milacic M., Lionel A.C., Sato D., Pinto D., Drmic I., Noakes C., Senman L., Zhang X., Mo R., Gauthier J., Crosbie J., Pagnamenta A.T., Munson J., Estes A.M., Fiebig A., Franke A., Schreiber S., Stewart A.F.R., Roberts R., McPherson R., Guter S.J., Cook E. H., Dawson G., Schellenberg G.D., Battaglia A., Maestrini E., Jeng L., Hutchison T., Rajcan-Separovic E., Chudley A.E., Lewis S.M.E., Liu X., Holden J.J., Fernandez B., Zwaigenbaum L., Bryson S.E., Roberts W., Szatmari P., Gallagher L., Stratton M.R., Gecz J., Brady A.F., Schwartz C.E., Schachar R.J., Monaco A., Rouleau G., Hui C-C., Lucy Raymond F., Scherer S. W., Vincent J.B.