Title |
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
|
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Published in |
American Journal of Human Genetics, June 2020
|
DOI | 10.1016/j.ajhg.2020.05.017 |
Pubmed ID | |
Authors |
Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld Oud, Inge van Outersterp, Michael Kwint, Melde Witmond, Simone Kersten, Daniel L. Polla, Dilys Weijers, Amber Begtrup, Kirsty McWalter, Anna Ruiz, Elisabeth Gabau, Jenny E.V. Morton, Christopher Griffith, Karin Weiss, Candace Gamble, James Bartley, Hilary J. Vernon, Kendra Brunet, Claudia Ruivenkamp, Sarina G. Kant, Paul Kruszka, Austin Larson, Alexandra Afenjar, Thierry Billette de Villemeur, Kimberly Nugent, the DDD Study, F. Lucy Raymond, Hanka Venselaar, Florence Demurger, Claudia Soler-Alfonso, Dong Li, Elizabeth Bhoj, Ian Hayes, Nina Powell Hamilton, Ayesha Ahmad, Rachel Fisher, Myrthe van den Born, Marjolaine Willems, Arthur Sorlin, Julian Delanne, Sebastien Moutton, Philippe Christophe, Frederic Tran Mau-Them, Antonio Vitobello, Himanshu Goel, Lauren Massingham, Chanika Phornphutkul, Jennifer Schwab, Boris Keren, Perrine Charles, Maaike Vreeburg, Lenika De Simone, George Hoganson, Maria Iascone, Donatella Milani, Lucie Evenepoel, Nicole Revencu, D. Isum Ward, Kaitlyn Burns, Ian Krantz, Sarah E. Raible, Jill R. Murrell, Kathleen Wood, Megan T. Cho, Hans van Bokhoven, Maximilian Muenke, Tjitske Kleefstra, Rolf Bodmer, Arjan P.M. de Brouwer |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 6 | 26% |
United Kingdom | 4 | 17% |
Israel | 2 | 9% |
Canada | 1 | 4% |
Germany | 1 | 4% |
Spain | 1 | 4% |
Mexico | 1 | 4% |
Netherlands | 1 | 4% |
Unknown | 6 | 26% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 15 | 65% |
Scientists | 7 | 30% |
Science communicators (journalists, bloggers, editors) | 1 | 4% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 75 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 13 | 17% |
Student > Master | 11 | 15% |
Researcher | 9 | 12% |
Student > Bachelor | 7 | 9% |
Student > Doctoral Student | 2 | 3% |
Other | 7 | 9% |
Unknown | 26 | 35% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 15 | 20% |
Neuroscience | 6 | 8% |
Psychology | 5 | 7% |
Agricultural and Biological Sciences | 5 | 7% |
Nursing and Health Professions | 4 | 5% |
Other | 10 | 13% |
Unknown | 30 | 40% |