• 1944 Citations
  • 18 h-Index
20132019
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Personal profile

External positions

University of Minnesota-Twin Cities

University of Washington

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Mutation Medicine & Life Sciences
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Pyrazines Medicine & Life Sciences

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Research Output 2013 2019

Histone 4 lysine 20 methylation: A case for neurodevelopmental disease

Wickramasekara, R. N. & Stessman, H., Mar 1 2019, In : Biology. 8, 1, 11.

Research output: Contribution to journalReview article

Open Access
Genetic Databases
Methylation
Histone Code
histones
methylation

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

Coe, B. P., Stessman, H., Sulovari, A., Geisheker, M. R., Bakken, T. E., Lake, A. M., Dougherty, J. D., Lein, E. S., Hormozdiari, F., Bernier, R. A. & Eichler, E. E., Jan 1 2019, In : Nature genetics. 51, 1, p. 106-116 11 p.

Research output: Contribution to journalArticle

Morbidity
Mutation
Genes
Chromosome Duplication
Exome
12 Citations (Scopus)

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
4 Citations (Scopus)

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. & 52 othersLongoni, 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., Vandeweyer, G., Kleefstra, T., Schieving, J., Jongmans, M. J., de Vries, B. B. A., Pfundt, R., Kerr, B., Rojas, S. K., Boycott, K. M., Person, R., Willaert, R., Eichler, E. E., Kooy, R. F., Yang, Y., Wu, J. C., Lupski, J. R., Arnesen, T., Cooper, G. M., Chung, W. K., Gecz, J., Stessman, H., Meng, L. & Lyon, G. J., 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
18 Citations (Scopus)

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 othersMonaghan, 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., 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

Proteasome Endopeptidase Complex
Ubiquitin
Clustered Regularly Interspaced Short Palindromic Repeats
Ubiquitinated Proteins
Biological Phenomena