BBS Faculty Member - Michael Talkowski

Michael Talkowski

Department of Neurology, Psychiatry and Pathology, MGH

Massachusetts General Hospital
Richard B. Simches Research-5.234
185 Cambridge St.
Boston, MA 02114
Tel: 617-643-3097
Visit my lab page here.

Genomics of human disease. We are interested in the functional consequences of the complete spectrum of genomic variation on human disease, with a particular focus on congenital birth defects, autism, neurodevelopmental disorders, and diverse neuropsychiatric disorders. The lab has a structural variation group, a functional genomics group, and a team dedicated to translating genomics technologies for genetic diagnostic, primarily prenatal and neonatal diagnostic sequencing. 

Last Update: 12/7/2016


For a complete listing of publications click here.



Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012 Apr 27;149(3):525-37. doi: 10.1016/j.cell.2012.03.028. Epub 2012 Apr 19. PubMed PMID: 22521361; PubMed Central PMCID: PMC3340505.

Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF,
Talkowski ME. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet. 2012 Mar 4;44(4):390-7, S1. doi: 10.1038/ng.2202. PubMed PMID: 22388000; PubMed Central PMCID: PMC3340016.

Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, Gusella JF,
Talkowski ME. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77. doi: 10.1073/pnas.1405266111. Epub 2014 Oct 7. PubMed PMID: 25294932; PubMed Central PMCID: PMC4210312.

Tai JC, Ragavendran A, Manavalan P, Stortchevoi A, Seabra CM, Erdin S, Collins RL, Blumenthal I, Chen X, Shen Y, Sahin M, Zhang C, Lee C, Gusella JF,
Talkowski ME. Engineering Recurrent, Reciprocal Genomic Disorders by CRISPR Targeting of Segmental Duplications. Nat Neurosci. 2016 Mar;19(3):517-22. PMID:26829649

© 2016 President and Fellows
of Harvard College