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Cited by 19Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathwaysGenomics and Rare Diseases

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

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Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N., Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A., Craigen, William J., Sanders, Stephan J., Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T., Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G., Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A., Patel, Ankita, Smith, Janice L., Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M., Gibson, James B., Cogné, Benjamin, Lupski, James R., Stessman, Holly A.F., Eichler, Evan E., Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A., Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand·2017·The American Journal of Human Genetics
DOI 10.1016/j.ajhg.2017.03.003PMC PMC5384094
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Authors
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., 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.
Affiliations
  • Centre Hospitalier Universitaire de Nantes (FR)
  • Charité – Universitätsmedizin Berlin (DE)
  • Duke Medical Center (US)
  • Warsaw University of Technology (PL)
  • Boston Children's Hospital (US)
  • Baylor College of Medicine (US)
  • University of California, San Francisco (US)
  • University of Miami (US)
  • Centre Hospitalier Universitaire de La Réunion (RE)
  • Centre National de la Recherche Scientifique (FR)
  • Centre Hospitalier Régional Universitaire de Brest (FR)
  • Université de Tours (FR)
  • Centre Hospitalier Universitaire de Bordeaux (FR)
  • Hôpital Necker-Enfants Malades (FR)
  • Pontificia Universidad Javeriana (CO)
  • Centre Hospitalier Universitaire de Toulouse (FR)
  • University of Washington (US)
  • Howard Hughes Medical Institute (US)
Corresponding author
  • Stankiewicz, Paweł
  • Isidor, Bertrand
ORCID
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2017-04
Volume
100
Issue
4
Pages
689
ISSN
0002-9297 (ISSN-L)
DOI
10.1016/j.ajhg.2017.03.003
PMC
PMC5384094
OpenAlex
W2611532687
Cited by
19
References
0
Citations by year
2026: 1 · 2025: 3 · 2024: 6 · 2023: 3 · 2022: 1 · 2021: 2 · 2020: 1 · 2018: 2
FWCI
0.53
Type
journal article
Language
en
Open access
Licence
Locations
  • The American Journal of Human Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • HAL (submittedVersion)
  • Intellectum (Universidad de La Sabana) (submittedVersion, cc-by-nc-nd)
Funders
National Institute of General Medical Sciences (R01GM121317)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ubiquitin and proteasome pathways
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
de novo mutations, de novo deletion, intellectual disability, congenital malformations, feeding difficulties, deafness, facial dysmorphism, ubiquitin-proteasome system, proteasome

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