Michael Talkowski, Ph.D.

Associate Professor, Massachusetts General Hospital
Associate Member, Broad Institute of MIT and Harvard

SFARI Investigator, SFARI Scientific Review Board Website

Michael Talkowski received his Ph.D. in human genetics and trained in genomics as a postdoctoral fellow at Harvard Medical School, Massachusetts General Hospital and the Broad Institute.

Talkowski’s research program has focused on understanding the genetic etiology of complex neurodevelopmental and neuropsychiatric disorders. His group integrates molecular and computational approaches to explore the functional consequences of genomic variation, with a particular interest in the relationship between genome structure and function.

He has co-led recent studies that sought to evaluate the complete genetic architecture of autism from whole-genome sequencing data and performed functional characterization of associated variation using genome-editing techniques and induced pluripotent stem cell models. His research into large chromosomal abnormalities and the mutational spectrum of structural variation in the human genome has resulted in the discovery of new classes of complex rearrangements that occur; such rearrangements often involve inversion-mediated alterations and include extreme examples of genome reorganization, such as chromothripsis.

Recent SFARI-funded research studies from Talkowski’s laboratory have led to numerous novel gene discoveries in autism, as well as findings that demonstrate the complexity associated with interpreting noncoding regulatory variation in autism.

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Funded Projects

SFARI Funded Publications

An open resource of structural variation for medical and population genetics. Collins R.L., Brand H., Karczewski K.J., Zhao X., Alföldi J., Francioli L.C., Khera A.V., Lowther C., Gauthier L.D., Wang H., Watts N.A., Solomonson M., O’Donnell-Luria A., Baumann A., Munshi R., Walker M., Whelan C., Huang Y., Brookings T., Sharpe T., Stone M.R., Valkanas E., Fu J., Tiao G., Laricchia K.M., Ruano-Rubio V., Stevens C., Gupta N., Margolin L., Taylor K.D., Lin H.J., Rich S.S., Post W., Chen Y.-D.I., Rotter J.I., Nusbaum C., Philippakis A., Lander E., Gabriel S., Neale B.M., Kathiresan S., Daly M., Banks E., MacArthur D.G., Talkowski M., Genome Aggregation Database Production team, Genome Aggregation Database Consortium.
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism Satterstrom F.K., Kosmicki, J.A., Wang J., Breen M.S., Rubeis S.D., An J-Y., Peng M., Collins R.L., Grove J., Lambertus K., Stevens C., Reichart J., Mulhern M., Artomov M., Gerges S., Sheppard B., Xu X., Bhaduri A., Norman U., Brand H., Schwartz G., Nguyen R., Guerrero E., Dias C., Aleksic B., Anney R.J.L., Barbosa M., Bishop S., Brusco A., Bybjerg-Grauholm J., Carracedo A., Chan M.C.Y., Chiocchetti A., Chung B., Coon H., Cuccaro M., Curró A., Bernardina B.D., Doan R., Domenici E., Dong S., Fallerini C., Fernández-Prieto M., Ferrero G.B., Freitag C.M., Fromer M., Gargus J.J., Geschwind D., Giorgio E., González-Peñas J., Guter S., Halpern D., Hassen-Kiss E., He X., Herman G., Hertz-Picciotto I., Hougaard D.M., Hultman C.M., Ionita-Laza I., Jacob S., Jamison J., Jugessur A., Kaartinen M., Knudsen G.P., Kolevzon A., Kushima I., Lee S.L., Lehtimäki T., Lim E.T., Lintas C., Lipkin W. I., Lopergolo D.L., Lopes F., Ludena Y., Maciel P., Magnus P. , Mahjani B., Maltman N., Manoach D.S., Meiri G., Menashe I., Miller J., Minshew N., de Souza E.M.M., Moreira D., Morrow E., Mors O., Mortensen P.B., Mosconi M., Muglia P., Neale B., Nordentoft M., Ozaki N., Palotie A., Parellada M., Passos-Bueno M.R., Pericak-Vance M., Persico A., Pessah I., Puura K., Reichenberg A., Renieri A., Riberi E., Robinson E., Samocha K.E., Sandin S., Santangelo S.L., Schellenberg G., Scherer S. W., Sabine S., Schmidt R., Schmitt L., Silva I.M.W., Singh T., Siper P., Smith M., Soares G., Stoltenberg C., Suren P., Susser E., Sweeney J., Szatmari P., Tang L., Tassone F., Teufel K., Trabetti E., del Pilar Trelles M., Walsh C., Weiss L., Werge T., Werling D., Wigdor E.M., Wilkinson E., Willsey A. J., Yu T., Yu M.H.C., Yuen R., Zachi E., Betancur C., Cook E. H., Gallagher L., Gill M., Lehner T., Senthil G., Sutcliffe J., Thurm A., Zwick M.E., Børglum A.D., State M., Cicek A. E., Talkowski M., Cutler D.J., Devlin B., Sanders S., Roeder K., Buxbaum J., Daly M.
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