SFARI | SFARI Funded Publications

Reports of echolalia and related behaviors in autism from parents, teachers, and clinicians: Evidence from the Simon Simplex Collection.

McAllister M.L., McFayden T., Harrop C.

The Relationships, Employment, Autonomy, and Life Satisfaction (REALS) measures for autistic adults and adults with other intellectual and developmental disabilities: Psychometric testing of the self-report and proxy versions.

Conner C.M., Yu L., MacKenzie K.T., Zeglen K.N., Rutenberg E.L., Pilkonis P.A., Eack S.M., Mazefsky C.A.

Cell type-specific roles of FOXP1 in the excitatory neuronal lineage during early neocortical murine development.

Ortiz A., Ayhan F., Khandelwal N., Outland E., Jankovic M., Harper M., Konopka G.

Paving the way toward treatment solutions for CTNNB1 syndrome: A patient organization perspective.

Miroševič Š, Khandelwal S., Amerson E., Parks E., Parks M., Cochran L., González-Hernández A., Ferraro M., Lisowski L., Perez-Iturralde A., Chung W., Jacob M.H., Žakelj N., Lainšček D., Forstnerič V., Sušjan P., Maruna M., Jerala R., Osredkar D.

Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability.

Frazier T., Busch R.M., Klaas P., Lachlan K., Spurling Jeste S., Kolevzon A., Loth E., Harris J., Pepper T., Anthony K., Graglia J.M., Helde K., Delagrammatikas C., Bedrosian-Sermone S., Smith-Hicks C., Sahin M., Youngstrom E.A., Eng C., Chetcuti L., Hardan A., Uljarevic M.

Comparison of autism domains across thirty rare variant genotypes.

Ali N.M.H., Chawner S.J.R.A., Kushan-Wells L., Bearden C., Mulle J.G., Pollak R.M., Gur R.E., Chung W.K., IMAGINE ID Consortium, Owen M.J., van den Bree M.B.M.

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: Potential links to mitochondrial dynamics and spinocerebellar ataxias.

Sandal P., Jong C.J., Merrill R.A., Kollman G.J., Paden A.H., Bend E.G., Sullivan J., Spillmann R.C., Shashi V., Vulto-van Silfhout A.T., Pfundt R., de Vries B.B.A., Li P.P., Bicknell L.S., Strack S.

Rare variant analyses in ancestrally diverse cohorts reveal novel ADHD risk genes.

Jung S., Caballero M., Olfson E., Newcorn J.H., Fernandez T., Mahjani B.

Molecular and cellular dynamics of the developing human neocortex at single-cell resolution.

Wang L., Wang C., Moriano J.A., Chen S., Zuo G., Cebrián-Silla A., Zhang S., Mukhtar T., Wang S., Song M., de Oliveria L.G., Bi Q., Augustin J.J., Ge X., Paredes M.F., Huang E.J., Alvarez-Buylla A., Duan X., Li J., Kriegstein A.

Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.

Avila M.N., Jung S., Satterstrom F.K., Fu J.M., Levy T., Sloofman L.G., Klei L., Pichardo T., Stevens C.R., Cusick C.M., Ames J.L., Campos G.S., Cerros H., Chaskel R., Costa C.I.S., Cuccaro M.L., Del Pilar Lopez A., Fernandez M., Ferro E., Galeano L., Girardi A.C.D.E.S., Griswold A.J., Hernandez L.C., Lourenço N., Ludena Y., Nuñez D.L., Oyama R., Peña K.P., Pessah I., Schmidt R., Sweeney H.M., Tolentino L., Wang J.Y.T., Albores-Gallo L., Croen L.A., Cruz-Fuentes C.S., Hertz-Picciotto I., Kolevzon A., Lattig M.C., Mayo L., Passos-Bueno M.R., Pericak-Vance M.A., Siper P.M., Tassone F., Trelles M.P., Autism Sequencing Consortium, Talkowski M., Daly M., Mahjani B., De Rubeis S., Cook E. H., Roeder K., Betancur C., Devlin B., Buxbaum J.