Title |
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
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Published in |
Genetics in Medicine, January 2019
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DOI | 10.1038/s41436-019-0433-1 |
Pubmed ID | |
Authors |
Michael D. Fountain, David S. Oleson, Megan E. Rech, Lara Segebrecht, Jill V. Hunter, John M. McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita S. Saenz, Robert C. Pedersen, Thomas M. Morgan, Jean P. Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L. Kang, Ankita Patel, Ian D. Krantz, Sarah E. Raible, Wendy Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M. Wentzensen, Richard E. Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Munnich, Mieke van Haelst, Klaske D. Lichtenbelt, Koen van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise L. Perry, Ryan J. Taft, Marilyn Jones, Diane Masser-Frye, David Dyment, Sunita Venkateswaran, Chumei Li, Luis F. Escobar, Denise Horn, Rebecca C. Spillmann, Loren Peña, Jolanta Wierzba, Tim M. Strom, Ilaria Parenti, Frank J. Kaiser, Nadja Ehmke, Christian P. Schaaf |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 43% |
Germany | 1 | 14% |
Unknown | 3 | 43% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 5 | 71% |
Practitioners (doctors, other healthcare professionals) | 1 | 14% |
Scientists | 1 | 14% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 156 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 23 | 15% |
Student > Master | 16 | 10% |
Researcher | 15 | 10% |
Student > Bachelor | 13 | 8% |
Professor | 8 | 5% |
Other | 20 | 13% |
Unknown | 61 | 39% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 24 | 15% |
Neuroscience | 16 | 10% |
Medicine and Dentistry | 11 | 7% |
Agricultural and Biological Sciences | 8 | 5% |
Psychology | 7 | 4% |
Other | 22 | 14% |
Unknown | 68 | 44% |