• 1370 Citations
  • 15 h-Index
20132018
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Personal profile

External positions

University of Minnesota-Twin Cities

University of Washington

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Research Output 2013 2018

1 Citations

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

ADNP Consortium Jan 1 2018 (Accepted/In press) In : Biological Psychiatry.

Research output: Contribution to journalArticle

Mutation
Autistic Disorder
Intellectual Disability
Genetic Association Studies
Parents
1 Citations

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Cheng, H. , Dharmadhikari, A. V. , Varland, S. , Ma, N. , Domingo, D. , Kleyner, R. , Rope, A. F. , Yoon, M. , Stray-Pedersen, A. , Posey, J. E. , Crews, S. R. , Eldomery, M. K. , Akdemir, Z. C. , Lewis, A. M. , Sutton, V. R. , Rosenfeld, J. A. , Conboy, E. , Agre, K. , Xia, F. , Walkiewicz, M. & 30 others Longoni, M., High, F. A., van Slegtenhorst, M. A., Mancini, G. M. S., Finnila, C. R., van Haeringen, A., den Hollander, N., Ruivenkamp, C., Naidu, S., Mahida, S., Palmer, E. E., Murray, L., Lim, D., Jayakar, P., Parker, M. J., Giusto, S., Stracuzzi, E., Romano, C., Beighley, J. S., Bernier, R. A., Küry, S., Nizon, M., Corbett, M. A., Shaw, M., Gardner, A., Barnett, C., Armstrong, R., Kassahn, K. S., Van Dijck, A. & Stessman, H. A. F. May 3 2018 In : American journal of human genetics. 102, 5, p. 985-994 10 p.

Research output: Contribution to journalArticle

N-Terminal Acetyltransferase A
Intellectual Disability
Genes
Acetylation
Translational Protein Modification
8 Citations

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: Contribution to journalArticle

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

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. & 33 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., 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: Contribution to journalArticle

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: Contribution to journalComment/debate

Medical Genetics
Proteasome Endopeptidase Complex
Names
Neurodevelopmental Disorders