Funded Projects
Triangulation of missense variant impact through multimodal modeling and functional assays
Awarded: 2022
Award Type: Targeted: Genomics of ASD: Pathways to Genetic Therapies
Award Type: Targeted: Genomics of ASD: Pathways to Genetic Therapies
Integrating germline and mosaic mutations to uncover novel autism risk genes and biological mechanisms
Awarded: 2019
Award Type: Pilot
Award Type: Pilot
SPARK
Awarded: 2016
Award Type: SPARK
Award Type: SPARK
SFARI Funded Publications
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X., Feliciano P., Shu C., Wang T., Astrovskaya I., Hall J., Obiajulu J.U., Wright J., Murali S., Xuming Xu S., Brueggeman L., Thomas T.R., Marchenko O., Fleisch C., Barns S.D., Green Snyder L., Han B., Chang T.S., Turner T., Harvey W.T., Nishida A., O'Roak B., Geschwind D., SPARK Consortium, Michaelson J., Volfovsky N., Eichler E., Shen Y., Chung W.
Validation of autism diagnosis and clinical data in the SPARK cohort.
Fombonne E., Coppola L., Mastel S., O'Roak B.
Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1.
Morotti H., Mastel S., Keller K., Barnard R.A., Hall T., O'Roak B., Fombonne E.