Title |
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
|
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Published in |
American Journal of Human Genetics, April 2018
|
DOI | 10.1016/j.ajhg.2018.02.021 |
Pubmed ID | |
Authors |
Claire Guissart, Xenia Latypova, Paul Rollier, Tahir N. Khan, Hannah Stamberger, Kirsty McWalter, Megan T. Cho, Susanne Kjaergaard, Sarah Weckhuysen, Gaetan Lesca, Thomas Besnard, Katrin Õunap, Lynn Schema, Andreas G. Chiocchetti, Marie McDonald, Julitta de Bellescize, Marie Vincent, Hilde Van Esch, Shannon Sattler, Irman Forghani, Isabelle Thiffault, Christine M. Freitag, Deborah Sara Barbouth, Maxime Cadieux-Dion, Rebecca Willaert, Maria J. Guillen Sacoto, Nicole P. Safina, Christèle Dubourg, Lauren Grote, Wilfrid Carré, Carol Saunders, Sander Pajusalu, Emily Farrow, Anne Boland, Danielle Hays Karlowicz, Jean-François Deleuze, Monica H. Wojcik, Rena Pressman, Bertrand Isidor, Annick Vogels, Wim Van Paesschen, Lihadh Al-Gazali, Aisha Mohamed Al Shamsi, Mireille Claustres, Aurora Pujol, Stephan J. Sanders, François Rivier, Nicolas Leboucq, Benjamin Cogné, Souphatta Sasorith, Damien Sanlaville, Kyle Retterer, Sylvie Odent, Nicholas Katsanis, Stéphane Bézieau, Michel Koenig, Erica E. Davis, Laurent Pasquier, Sébastien Küry |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 20% |
United Kingdom | 1 | 10% |
Argentina | 1 | 10% |
Unknown | 6 | 60% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 6 | 60% |
Scientists | 2 | 20% |
Practitioners (doctors, other healthcare professionals) | 1 | 10% |
Science communicators (journalists, bloggers, editors) | 1 | 10% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 126 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 22 | 17% |
Researcher | 15 | 12% |
Student > Bachelor | 13 | 10% |
Student > Ph. D. Student | 13 | 10% |
Other | 7 | 6% |
Other | 22 | 17% |
Unknown | 34 | 27% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 27 | 21% |
Medicine and Dentistry | 17 | 13% |
Neuroscience | 9 | 7% |
Agricultural and Biological Sciences | 9 | 7% |
Psychology | 6 | 5% |
Other | 15 | 12% |
Unknown | 43 | 34% |