Personal profile

External positions

University of Minnesota-Twin Cities

University of Washington

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Research Output 2013 2017

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Küry, S. , Besnard, T. , Ebstein, F. , Khan, T. N. , Gambin, T. , Douglas, J. , Bacino, C. A. , Sanders, S. J. , Lehmann, A. , Latypova, X. , Khan, K. , Pacault, M. , Sacharow, S. , Glaser, K. , Bieth, E. , Perrin-Sabourin, L. , Jacquemont, M. L. , Cho, M. T. , Roeder, E. , Denommé-Pichon, A. S. & 40 others Monaghan, K. G., Yuan, B., Xia, F., Simon, S., Bonneau, D., Parent, P., Gilbert-Dussardier, B., Odent, S., Toutain, A., Pasquier, L., Barbouth, D., Shaw, C. A., Patel, A., Smith, J. L., Bi, W., Schmitt, S., Deb, W., Nizon, M., Mercier, S., Vincent, M., Rooryck, C., Malan, V., Briceño, I., Gómez, A., Nugent, K. M., Gibson, J. B., Cogné, B., Lupski, J. R., Stessman, H. A. F., Eichler, E. E., Retterer, K., Yang, Y., Redon, R., Katsanis, N., Rosenfeld, J. A., Kloetzel, P. M., Golzio, C., Bézieau, S., Stankiewicz, P. & Isidor, B. Feb 2 2017 In : American Journal of Human Genetics. 100, 2, p. 352-363 12 p.

Research output: Research - peer-reviewArticle

DNA Copy Number Variations
Animal Disease Models
Microcephaly
Gene Deletion
Preschool Children

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Küry, S. , van Woerden, G. M. , Besnard, T. , Proietti Onori, M. , Latypova, X. , Towne, M. C. , Cho, M. T. , Prescott, T. E. , Ploeg, M. A. , Sanders, S. , Stessman, H. A. F. , Pujol, A. , Distel, B. , Robak, L. A. , Bernstein, J. A. , Denommé-Pichon, A. S. , Lesca, G. , Sellars, E. A. , Berg, J. , Carré, W. & 87 others Busk, Ø. L., van Bon, B. W. M., Waugh, J. L., Deardorff, M., Hoganson, G. E., Bosanko, K. B., Johnson, D. S., Dabir, T., Holla, Ø. L., Sarkar, A., Tveten, K., de Bellescize, J., Braathen, G. J., Terhal, P. A., Grange, D. K., van Haeringen, A., Lam, C., Mirzaa, G., Burton, J., Bhoj, E. J., Douglas, J., Santani, A. B., Nesbitt, A. I., Helbig, K. L., Andrews, M. V., Begtrup, A., Tang, S., van Gassen, K. L. I., Juusola, J., Foss, K., Enns, G. M., Moog, U., Hinderhofer, K., Paramasivam, N., Lincoln, S., Kusako, B. H., Lindenbaum, P., Charpentier, E., Nowak, C. B., Cherot, E., Simonet, T., Ruivenkamp, C. A. L., Hahn, S., Brownstein, C. A., Xia, F., Schmitt, S., Deb, W., Bonneau, D., Nizon, M., Quinquis, D., Chelly, J., Rudolf, G., Sanlaville, D., Parent, P., Gilbert-Dussardier, B., Toutain, A., Sutton, V. R., Thies, J., Peart-Vissers, L. E. L. M., Boisseau, P., Vincent, M., Grabrucker, A. M., Dubourg, C., Tan, W. H., Verbeek, N. E., Granzow, M., Santen, G. W. E., Shendure, J., Isidor, B., Pasquier, L., Redon, R., Yang, Y., State, M. W., Kleefstra, T., Cogné, B., Petrovski, S., Retterer, K., Eichler, E. E., Rosenfeld, J. A., Agrawal, P. B., Bézieau, S., Odent, S., Elgersma, Y., Mercier, S., GEM HUGO, Deciphering Developmental Disorders Study & Undiagnosed Diseases Network Nov 2 2017 In : American journal of human genetics. 101, 5, p. 768-788 21 p.

Research output: Research - peer-reviewArticle

Exome
Calcium-Calmodulin-Dependent Protein Kinase Type 2
Neuronal Plasticity
HEK293 Cells
Inbred C57BL Mouse

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Küry, S. , Besnard, T. , Ebstein, F. , Khan, T. N. , Gambin, T. , Douglas, J. , Bacino, C. A. , Craigen, W. J. , Sanders, S. J. , Lehmann, A. , Latypova, X. , Khan, K. , Pacault, M. , Sacharow, S. , Glaser, K. , Bieth, E. , Perrin-Sabourin, L. , Jacquemont, M. L. , Cho, M. T. , Roeder, E. & 41 others Denommé-Pichon, A. S., Monaghan, K. G., Yuan, B., Xia, F., Simon, S., Bonneau, D., Parent, P., Gilbert-Dussardier, B., Odent, S., Toutain, A., Pasquier, L., Barbouth, D., Shaw, C. A., Patel, A., Smith, J. L., Bi, W., Schmitt, S., Deb, W., Nizon, M., Mercier, S., Vincent, M., Rooryck, C., Malan, V., Briceño, I., Gómez, A., Nugent, K. M., Gibson, J. B., Cogné, B., Lupski, J. R., Stessman, H. A. F., Eichler, E. E., Retterer, K., Yang, Y., Redon, R., Katsanis, N., Rosenfeld, J. A., Kloetzel, P. M., Golzio, C., Bézieau, S., Stankiewicz, P. & Isidor, B. Apr 6 2017 In : American Journal of Human Genetics. 100, 4, 1 p.

Research output: Research - peer-reviewComment/debate

Medical Genetics
Proteasome Endopeptidase Complex
Names
Neurodevelopmental Disorders

Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism

Hudac, C. M., Stessman, H. A. F., DesChamps, T. D., Kresse, A., Faja, S., Neuhaus, E., Webb, S. J., Eichler, E. E. & Bernier, R. A. Jan 1 2017 In : Journal of Neurodevelopmental Disorders. 9, 1, 24

Research output: Research - peer-reviewArticle

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Geisheker, M. R. , Heymann, G. , Wang, T. , Coe, B. P. , Turner, T. N. , Stessman, H. A. F. , Hoekzema, K. , Kvarnung, M. , Shaw, M. , Friend, K. , Liebelt, J. , Barnett, C. , Thompson, E. M. , Haan, E. , Guo, H. , Anderlid, B. M. , Nordgren, A. , Lindstrand, A. , Vandeweyer, G. , Alberti, A. & 20 others Avola, E., Vinci, M., Giusto, S., Pramparo, T., Pierce, K., Nalabolu, S., Michaelson, J. J., Sedlacek, Z., Santen, G. W. E., Peeters, H., Hakonarson, H., Courchesne, E., Romano, C., Kooy, R. F., Bernier, R. A., Nordenskjöld, M., Gecz, J., Xia, K., Zweifel, L. S. & Eichler, E. E. Aug 1 2017 In : Nature Neuroscience. 20, 8, p. 1043-1051 9 p.

Research output: Research - peer-reviewArticle