SFARI | SFARI Funded Publications

Impaired regulation of KCC2 phosphorylation leads to neuronal network dysfunction and neurodevelopmental pathology.

Pisella L.I., Gaiarsa J.L., Diabira D., Zhang J., Khalilov I., Duan J., Kahle K., Medina I.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Guo H., Bettella E., Marcogliese P.C., Zhao R., Andrews J.C., Nowakowski T., Gillentine M.A., Hoekzema K., Wang T., Wu H., Jangam S., Liu C., Ni H., Willemsen M.H., van Bon B.W., Rinne T., Stevens S.J.C., Kleefstra T., Brunner H.G., Yntema H.G., Long M., Zhao W., Hu Z., Colson C., Richard N., Schwartz C.E., Romano C., Castiglia L., Bottitta M., Dhar S.U., Erwin D.J., Emrick L., Keren B., Afenjar A., Zhu B., Bai B., Stankiewicz P., Herman K., University of Washington Center for Mendelian Genomics, Mercimek-Andrews S., Juusola J., Wilfert A.B., Abou Jamra R., Büttner B., Mefford H., Muir A.M., Scheffer I.E., Regan B.M., Malone S., Gecz J., Cobben J., Weiss M.M., Waisfisz Q., Bijlsma E.K., Hoffer M.J.V., Ruivenkamp C.A.L., Sartori S., Xia F., Rosenfeld J.A., Bernier R., Wangler M., Yamamoto S., Xia K., Stegmann A.P.A., Bellen H.J., Murgia A., Eichler E.

Developmental trajectories of infants with multiplex family risk for autism: A Baby Siblings Research Consortium study.

McDonald N.M., Senturk D., Scheffler A., Brian J.A., Carver L.J., Charman T., Chawarska K., Curtin S., Hertz-Piccioto I., Jones E., Klin A., Landa R., Messinger D.S., Ozonoff S., Stone W.L., Tager-Flusberg H., Webb S. J., Young G., Zwaigenbaum L., Spurling Jeste S.

Complex oscillatory waves emerging from cortical organoids model early human brain network development.

Trujillo C.A., Gao R., Negraes P.D., Gu J., Buchanan J., Preissl S., Wang A., Wu W., Haddad G.G., Chaim I.A., Domissy A., Vandenberghe M., Devor A., Yeo G., Voytek B., Muotri A.

Gaining insights into aggressive behaviour in autism spectrum disorder using latent profile analysis.

Sullivan M.O., Gallagher L., Heron E.A.

Altered neural connectivity in females, but not males with autism: Preliminary evidence for the female protective effect from a quality-controlled diffusion tensor imaging study.

Lei J., Lecarie E., Jurayj J., Boland S., Sukhodolsky D., Ventola P., Pelphrey K., Jou R. J.

Functional flexibility in cortical circuits.

Cardin J.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

Guo H., Li Y., Shen L., Wang T., Jia X., Liu L., Xu T., Ou M., Hoekzema K., Wu H., Gillentine M.A, Liu C., Ni H., Peng P., Zhao R., Zhang Y., Phornphutkul C., Stegmann A.P.A, Prada C.E., Hopkin R.J., Shieh J.T., McWalter K., Monaghan K.G., van Hasselt P.M., van Gassen K., Bai T., Long M., Han L., Quan Y., Chen M., Zhang Y., Li K., Zhang Q., Tan J., Zhu T., Liu Y., Pang N., Peng J., Scott D.A., Lalani S.R., Azamian M., Mancini G.M.S., Adams D.J., Kvarnung M., Lindstrand A., Nordgren A., Pevsner J., Osei-Owusu I.A., Romano C., Calabrese G., Galesi O., Gecz J., Haan E., Ranells J., Racobaldo M., Nordenskjold M., Madan-Khetarpal S., Sebastian J., Ball S., Zou X., Zhao J., Hu Z., Xia F., Liu P., Rosenfeld J.A., de Vries B.B.A., Bernier R., Xu Z.-Q.D., Li H., Xie W., Hufnagel R.B., Eichler E., Xia K.

Oligogenic effects of 16p11.2 copy number variation on craniofacial development.

Qiu Y., Arbogast T., Lorenzo S.M., Li H., Tang S.C., Richardson E., Hong O., Cho S., Shanta O., Pang T., Corsello C., Deutsch C., Chevalier C., Davis E.E., Iakoucheva L., Herault Y., Katsanis N., Messer K., Sebat J.

ST-Steiner: A spatio-temporal gene discovery algorithm.

Norman U., Çiçek A. E.