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Headshot of Investigator Michael Talkowski.
Headshot of Investigator Michael Talkowski.

Awardee

Michael Talkowski, Ph.D.

SFARI Investigator

SFARI Scientific Review Board

Affiliations
  • Director, Center for Genomic Medicine, Massachusetts General Hospital
  • Professor, Harvard Medical School
  • Institute Member, Broad Institute of MIT and Harvard
Website
talkowski.mgh.harvard.edu

Publications

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

medRxiv, January 6, 2025

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., A. Kolevzon, Lattig M.C., Mayo L., Passos-Bueno M.R., Pericak-Vance M.A., Siper P.M., Tassone F., Trelles M.P., Autism Sequencing Consortium, M. Talkowski, M. Daly, Mahjani B., De Rubeis S., et al.

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

Neuron, September 20, 2023

Kipkemoi P., Kim H.A., Christ B., O’Heir E., Allen J., Austin-Tse C., et al.

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

Nat. Genet., August 1, 2023

Valencia A.M., Sankar A., van der Sluijs P.J., Satterstrom F.K., Fu J., M. Talkowski, et al.

CHD8 suppression impacts on histone h3 lysine 36 trimethylation and alters rna alternative splicing.

Nucleic Acids Res., December 9, 2022

Kerschbamer E., Arnoldi M., Tripathi T., Pellegrini M., Maturi S., Erdin S., et al.

Projects

Systematic analysis of the complete mutational spectrum of structural variation associated with autism and a continuum of developmental disorders from short-read and long-read genome sequencing

Awarded 2025
Colorful DNA sequencing chromatogram showing overlapping peaks and corresponding DNA base letters (A, T, C, G) on a black background, representing genetic data analysis.

SPARKing a global gene discovery effort in ASD: Analysis of structural variation

Awarded 2018
Colorful DNA sequencing chromatogram showing overlapping peaks and corresponding DNA base letters (A, T, C, G) on a black background, representing genetic data analysis.

SSC-ASC Whole-Genome Sequencing Consortium (project 3): Discovery and functional characterization of structural variation in autism

Awarded 2018
Colorful DNA sequencing chromatogram showing overlapping peaks and corresponding DNA base letters (A, T, C, G) on a black background, representing genetic data analysis.

Integrating large-scale whole-exome data with whole-genome data

Awarded 2015

Featuring Michael Talkowski

SFARI spotlight image.

Announcing the Recipients of the 2025 Data Analysis Awards

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2022 Genomics of ASD: Pathways to Genetic Therapies Awardees Announced

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SFARI Announces Genomic Analysis for Autism Risk Variants in SPARK Awardees

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SFARI 2018 Pilot and Research Awardees Announced

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