Cognitive Genomics

The major psychiatric disorders comprise a cluster of illnesses which have enormous impact on those who suffer from them and their families. These disorders are also a tremendous burden on the American economy and a significant cause of mortality and morbidity in the U.S. population. All of these disorders are a result of the interaction of hereditary factors, the genomes of those who have them, and environmental factors. We are working to understand the hereditary aspects of these disorders.

This work is done as part of the Stanley Center for Cognitive Genomics at Cold Spring Harbor Laboratory.

Selected Publications:

Iossifov, I. and O’Roak, B. J. and Sanders, S. J. and Ronemus, M. and Krumm, N. and Levy, D. and Stessman, H. A. and Witherspoon, K. T. and Vives, L. and Patterson, K. E. and Smith, J. D. and Paeper, B. and Nickerson, D. A. and Dea, J. and Dong, S. and Gonzalez, L. E. and Mandell, J. D. and Mane, S. M. and Murtha, M. T. and Sullivan, C. A. and Walker, M. F. and Waqar, Z. and Wei, L. and Willsey, A. J. and Yamrom, B. and Lee, Y. H. and Grabowska, E. and Dalkic, E. and Wang, Z. and Marks, S. and Andrews, P. and Leotta, A. and Kendall, J. and Hakker, I. and Rosenbaum, J. and Ma, B. and Rodgers, L. and Troge, J. and Narzisi, G. and Yoon, S. and Schatz, M. C. and Ye, K. and McCombie, W. R. and Shendure, J. and Eichler, E. E. and State, M. W. and Wigler, M. (2014) The contribution of de novo coding mutations to autism spectrum disorder. Nature, 515(7526) pp. 216-221.

McCarthy, S. E. and Gillis, J. and Kramer, M. and Lihm, J. and Yoon, S. and Berstein, Y. and Mistry, M. and Pavlidis, P. and Solomon, R. and Ghiban, E. and Antoniou, E. and Kelleher, E. and O’Brien, C. and Donohoe, G. and Gill, M. and Morris, D. W. and McCombie, W. R. and Corvin, A. (2014) De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability. Molecular Psychiatry, 19(6) pp. 652-658.

Thomson, P. A. and Parla, J. S. and McRae, A. F. and Kramer, M. and Ramakrishnan, K. and Yao, J. and Soares, D. C. and McCarthy, S. and Morris, S. W. and Cardone, L. and Cass, S. and Ghiban, E. and Hennah, W. and Evans, K. L. and Rebolini, D. and Millar, J. K. and Harris, S. E. and Starr, J. M. and MacIntyre, D. J. and McIntosh, A. M. and Watson, J. D. and Deary, I. J. and Visscher, P. M. and Blackwood, D. H. and McCombie, W. R. and Porteous, D. J. (2014) 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: Analysis for association with psychiatric disorder and cognitive traits. Molecular Psychiatry, 19(6) pp. 668-675.

McCarthy, S. E. and McCombie, W. R. and Corvin, A. (2014) Unlocking the Treasure Trove: From Genes to Schizophrenia Biology. Schizophrenia Bulletin.

Iossifov, I. and Ronemus, M. and Levy, D. and Wang, Z. H. and Hakker, I. and Rosenbaum, J. and Yamrom, B. and Lee, Y. H. and Narzisi, G. and Leotta, A. and Kendall, J. and Grabowska, E. and Ma, B. C. and Marks, S. and Rodgers, L. and Stepansky, A. and Troge, J. and Andrews, P. and Bekritsky, M. and Pradhan, K. and Ghiban, E. and Kramer, M. and Parla, J. and Demeter, R. and Fulton, L. L. and Fulton, R. S. and Magrini, V. J. and Ye, K. and Darnell, J. C. and Darnell, R. B. and Mardis, E. R. and Wilson, R. K. and Schatz, M. C. and McCombie, W. R. and Wigler, M. (2012) De Novo Gene Disruptions in Children on the Autistic Spectrum. Neuron, 74(2) pp. 285-299.

Hodges, E. and Xuan, Z. Y. and Balija, V. and Kramer, M. R. and Molla, M. N. and Smith, S. W. and Middle, C. M. and Rodesch, M. J. and Albert, T. J. and Hannon, G. J. and McCombie, W. R. (2007) Genome-wide in situ exon capture for selective resequencing. Nature Genetics, 39(12) pp. 1522-7.