SFARI

Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms.

Patowary A., Zhang P., Jops C., Vuong C.K., Ge X., Hou K., Kim M., Gong N., Margolis M., Vo D., Wang X., Liu C., Pasaniuc B., Li J.J., Gandal M., de la Torre-Ubieta L.

Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene.

Fernandez T., Williams Z., Kline T., Rajendran S., Augustine F., Wright N., Sullivan C.A.W., Olfson E., Abdallah S.B., Liu W., Hoffman E., Gupta A., Singer H.S.

Epilepsy-associated SCN2A (NAV1.2) variants exhibit diverse and complex functional properties.

Thompson C.H., Potet F., Abramova T.V., DeKeyser J.M., Ghabra N.F., Vanoye C.G., Millichap J.J., George Jr. A. L.

Single cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism.

Perez Y., Velmeshev D., Wang L., White M., Siebert C., Baltazar J., Dutton N.G., Wang S., Haeussler M., Chamberlain S., Kriegstein A.

Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk.

Shin T., Song J.H.T., Kosicki M., Kenny C., Beck S.G., Kelley L., Qian X., Bonacina J., Papandile F., Antony I., Gonzalez D., Scotellaro J., Bushinsky E.M., Andersen R.E., Maury E., Pennacchio L., Doan R., Walsh C.

Phenotype and genetic analysis of data collected within the first year of NeuroDev.

Kipkemoi P., Kim H.A., Christ B., O’Heir E., Allen J., Austin-Tse C., Baxter S., Brand H., Bryant S., Buser N., de Menil V., Eastman E., Murugasen S., Galvin A., Kombe N., Ngombo A., Mkubwa B., Mwangi P., Kipkoech C., Lovgren A., MacArthur D.G., Melly B., Mwangasha K., Martin A., Nkambule L.L., Sanchis-Juan A., Singer-Berk M., Talkowski M., VanNoy G., van der Merwe C., NeuroDev Project, Newton C., O’Donnell Luria A., Abubakar A., Donald K., Robinson E.

Funded Publications

Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms.

Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene.

Epilepsy-associated SCN2A (NAV1.2) variants exhibit diverse and complex functional properties.

Single cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism.

Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk.

Phenotype and genetic analysis of data collected within the first year of NeuroDev.

Increased rates of chronic physical health conditions across all organ systems in autistic adolescents and adults.

Accelerated longitudinal weight gain among infants with in utero COVID-19 exposure.

Community providers’ reported use of treatment practices in the United States.

Single-cell brain organoid screening identifies developmental defects in autism.