SFARI | SFARI Funded Publications

The general impact of haploinsufficiency on brain connectivity underlies the pleiotropic effect of neuropsychiatric CNVs.

Moreau C., Huguet G., Urchs S., Douard E.A., Sharmarke H., Orban P., Labbe A., Modenato C., Martin-Brevet S., Kuldeep K., Martin C.-O., Jizi K., Younis N., Tamer P., Martineau J.-L., Silva A.I., Jonch A.E., Lin A., Simons Variation in Individuals Project (VIP) Consortium, Hall J., van den Bree M.B.M., Owen M.J., Linden D.E.J., Maillard A., Lippé S., Greenwood C.M., Bearden C., Thompson P.M., Bellec P., Jacquemont S.

Autism-misregulated eIF4G microexons control synaptic translation and higher order cognitive functions.

Gonatopoulos-Pournatzis T., Niibori R., Salter E.W., Weatheritt R.J., Tsang B., Farhangmehr S., Liang X., Braunschweig U., Roth J., Zhang S., Henderson T., Sharma E., Quesnel-Vallières M., Permanyer J., Maier S., Georgiou J., Irimia M., Sonenberg N., Forman-Kay J.D., Gingras A.C., Collingridge G.L., Woodin M., Cordes S.P., Blencowe B.

Cortical Foxp2 supports behavioral flexibility and developmental dopamine D1 receptor expression.

Co M., Hickey S.L., Kulkarni A., Harper M., Konopka G.

Forecasting risk gene discovery in autism with machine learning and genome-scale data.

Brueggeman L., Koomar T., Michaelson J.

Interneuron transplantation rescues social behavior deficits without restoring wild-type physiology in a mouse model of autism with excessive synaptic inhibition.

Southwell D.G., Seifikar H., Malik R., Lavi K., Vogt D., Rubenstein J., Sohal V.

Inhibitory regulation of calcium transients in prefrontal dendritic spines is compromised by a nonsense Shank3 mutation.

Ali F., Shao L.X., Gerhard D.M., Sweasy K., Pothula S., Pittenger C., Duman R.S., Kwan A. C.

Social stimuli induce activation of oxytocin neurons within the paraventricular nucleus of the hypothalamus to promote social behavior in male mice.

Resendez S.L., Namboodiri V.M.K., Otis J.M., Eckman L.E.H., Rodriguez-Romaguera J., Ung R.L., Basiri M.L., Kosyk O., Rossi M.A., Dichter G., Stuber G.

Single-cell analysis of Foxp1-driven mechanisms essential for striatal development.

Anderson A.G., Kulkarni A., Harper M., Konopka G.

Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants.

Thompson C.H., Ben-Shalom R., Bender K., George Jr. A. L.

Large-scale analyses of the relationship between sex, age and intelligence quotient heterogeneity and cortical morphometry in autism spectrum disorder.

Bedford S.A., Park M.T.M., Devenyi G.A., Tullo S., Germann J., Patel R., Anagnostou E., Baron-Cohen S., Bullmore E.T., Chura L.R., Craig M.C., Ecker C., Floris D.L., Holt R.J., Lenroot R., Lerch J., Lombardo M., Murphy D., Raznahan A., Ruigrok A.N.V., Smith E., Spencer M.D., Suckling J., Taylor M.J., Thurm A., MRC AIMS Consortium, Lai M.-C., Chakravarty M.M.