Director, Center for Genomic Medicine, Massachusetts General Hospital
WebsiteFunded Projects
SSC-ASC Whole-Genome Sequencing Consortium (project 3): Discovery and functional characterization of structural variation in autism
Awarded: 2018
Award Type: Research
Award Type: Research
SPARKing a global gene discovery effort in ASD: Analysis of structural variation
Awarded: 2018
Award Type: Targeted: Genomic Analysis for Autism Risk Variants in SPARK
Award Type: Targeted: Genomic Analysis for Autism Risk Variants in SPARK
Cryptic genetic causes of autism
Awarded: 2015
Award Type: Research
Award Type: Research
SFARI Funded Publications
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.
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia A.M., Sankar A., van der Sluijs P.J., Satterstrom F.K., Fu J., Talkowski M., Vergano S.A.S., Santen G.W.E., Kadoch C.
CHD8 suppression impacts on histone h3 lysine 36 trimethylation and alters rna alternative splicing.
Kerschbamer E., Arnoldi M., Tripathi T., Pellegrini M., Maturi S., Erdin S., Salviato E., Di Leva F., Sebestyén E., Dassi E., Zarantonello G., Benelli M., Campos E., Basson M. A., Gusella J., Gustincich S., Piazza S., Demichelis F., Talkowski M., Ferrari F., Biagioli M.