SFARI | SFARI Funded Publications

UBE3A loss increases excitability and blunts orientation tuning in the visual cortex of Angelman syndrome model mice.

Wallace M.L., van Woerden G.M., Elgersma Y., Smith S.L., Philpot B.

Mapping 22q11.2 gene dosage effects on brain morphometry.

Lin A., Ching C.R.K., Vajdi A., Sun D., Jonas R.K., Jalbrzikowski M., Kushan-Wells L., Pacheco Hansen L., Krikorian E., Gutman B., Dokoru D., Helleman G., Thompson P.M., Bearden C.

Neuroanatomy in mouse models of Rett syndrome is related to the severity of Mecp2 mutation and behavioral phenotypes.

Allemang-Grand R., Ellegood J., Spencer Noakes L., Ruston J., Justice M., Nieman B.J., Lerch J.

Hierarchical cortical transcriptome disorganization in autism.

Lombardo M., Courchesne E., Lewis N.E., Pramparo T.

Epidemiological and serological investigation into the role of gestational maternal influenza virus infection and autism spectrum disorders.

Mahic M., Che X., Susser E., Levin B., Reichborn-Kjennerud T., Magnus P., Stoltenberg C., Chauhan L., Briese T., Bresnahan M., Suren P., Hornig M., Mjaaland S., Lipkin W. I.

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Geisheker M.R., Heymann G., Wang T., Coe B.P., Turner T.N., Stessman H., Hoekzema K., Kvarnung M., Shaw M., Friend K., Liebelt J., Barnett C., Thompson E.M., Haan E., Guo H., Anderlid B.M., Nordgren A., Lindstrand A., Vandeweyer G., Alberti A., Avola E., Vinci M., Giusto S., Pramparo T., Pierce K., Nalabolu S., Michaelson J., Sedlacek Z., Santen G.W.E., Peeters H., Hakonarson H., Courchesne E., Romano C., Kooy R.F., Bernier R., Nordenskjöld M., Gecz J., Xia K., Zweifel L., Eichler E.

Developmental trajectories for young children with 16p11.2 copy number variation.

Bernier R., Hudac C.M., Chen Q., Zeng C., Wallace A.S., Gerdts J., Earl R., Peterson J., Wolken A., Peters A., Hanson E., Goin-Kochel R., Kanne S., Green Snyder L., Chung W., Simons VIP consortium

Pathogenic variants that alter protein code often disrupt splicing.

Soemedi R., Cygan K.J., Rhine C.L., Wang J., Bulacan C., Yang J., Bayrak-Toydemir P., McDonald J., Fairbrother W.

Identification of developmental and behavioral markers associated with genetic abnormalities in autism spectrum disorder.

Bishop S., Farmer C., Bal V., Robinson E., Willsey A. J., Werling D., Havdahl K.A., Sanders S., Thurm A.

Arbaclofen in children and adolescents with autism spectrum disorder: A randomized, controlled, phase 2 trial.

Veenstra-VanderWeele J., Cook E. H., King B., Zarevics P., Cherubini M., Walton-Bowen K., Bear M., Wang P., Carpenter R.L.