Title |
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
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Published in |
Genetics in Medicine, July 2020
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DOI | 10.1038/s41436-020-0898-y |
Pubmed ID | |
Authors |
Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, Emilie Tisserant, Ange-Line Bruel, Sara El Kennani, Joaquim Sá, Karen J. Low, Cristina Dias, Markéta Havlovicová, Miroslava Hančárová, Evan E. Eichler, Françoise Devillard, Sébastien Moutton, Julien Van-Gils, Christèle Dubourg, Sylvie Odent, Bénédicte Gerard, Amélie Piton, Toshiyuki Yamamoto, Nobuhiko Okamoto, Helen Firth, Kay Metcalfe, Anna Moh, Kimberly A. Chapman, Erfan Aref-Eshghi, Jennifer Kerkhof, Annalaura Torella, Vincenzo Nigro, Laurence Perrin, Juliette Piard, Gwenaël Le Guyader, Thibaud Jouan, Christel Thauvin-Robinet, Yannis Duffourd, Jaya K. George-Abraham, Catherine A. Buchanan, Denise Williams, Usha Kini, Kate Wilson, Sérgio B. Sousa, Raoul C. M. Hennekam, Bekim Sadikovic, Julien Thevenon, Jérôme Govin, Antonio Vitobello, Nicola Brunetti-Pierri |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Belgium | 1 | 11% |
Saudi Arabia | 1 | 11% |
Italy | 1 | 11% |
France | 1 | 11% |
United States | 1 | 11% |
United Kingdom | 1 | 11% |
Unknown | 3 | 33% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 5 | 56% |
Scientists | 3 | 33% |
Science communicators (journalists, bloggers, editors) | 1 | 11% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 48 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Unspecified | 5 | 10% |
Researcher | 5 | 10% |
Other | 4 | 8% |
Student > Ph. D. Student | 4 | 8% |
Student > Postgraduate | 3 | 6% |
Other | 9 | 19% |
Unknown | 18 | 38% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 13 | 27% |
Unspecified | 5 | 10% |
Medicine and Dentistry | 5 | 10% |
Psychology | 2 | 4% |
Philosophy | 1 | 2% |
Other | 3 | 6% |
Unknown | 19 | 40% |