Title |
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
|
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Published in |
Genetics in Medicine, June 2019
|
DOI | 10.1038/s41436-019-0585-z |
Pubmed ID | |
Authors |
Enrico D. H. Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horvath, Stephanie L. Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E. Stuurman, Katrin Õunap, Sander Pajusalu, Monica H. Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege M. Schnelle, Siren Berland, Evelien Zonneveld-Huijssoon, Simone Kersten, Aditi Gupta, Patrick R. Blackburn, Marissa S. Ellingson, Matthew J. Ferber, Radhika Dhamija, Eric W. Klee, Meriel McEntagart, Klaske D. Lichtenbelt, Amy Kenney, Samantha A. Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J. Hopkin, Richard J. Martin, Marjolijn C. J. Jongmans, Vivian Y. Chang, Julian A. Martinez-Agosto, Outi Kuismin, Mitja I. Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J. Maarup, Diana S. Johnson, Katja Venborg Pedersen, Lone W. Laulund, Sally A. Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H. Brilstra, Marwan Shinawi, Emily Fassi, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 20% |
United Kingdom | 2 | 13% |
Israel | 1 | 7% |
Finland | 1 | 7% |
Unknown | 8 | 53% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 8 | 53% |
Scientists | 5 | 33% |
Practitioners (doctors, other healthcare professionals) | 1 | 7% |
Science communicators (journalists, bloggers, editors) | 1 | 7% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 76 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 11 | 14% |
Student > Bachelor | 6 | 8% |
Researcher | 6 | 8% |
Student > Doctoral Student | 5 | 7% |
Student > Postgraduate | 5 | 7% |
Other | 13 | 17% |
Unknown | 30 | 39% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 20 | 26% |
Medicine and Dentistry | 10 | 13% |
Agricultural and Biological Sciences | 8 | 11% |
Psychology | 2 | 3% |
Neuroscience | 2 | 3% |
Other | 3 | 4% |
Unknown | 31 | 41% |