Title |
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
|
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Published in |
American Journal of Human Genetics, February 2020
|
DOI | 10.1016/j.ajhg.2020.01.019 |
Pubmed ID | |
Authors |
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P. Pedro, Groupe DI France, Mouna Barat-Houari, Nathalie Ruiz-Pallares, Jean-Christophe Andrau, Didier Lacombe, Julien Van-Gils, Patricia Fergelot, Christèle Dubourg, Valerie Cormier-Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier-Veber, Gaël Nicolas, Gaetan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet, Frederic Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel Mannens, Peter Henneman, Raoul C. Hennekam, Guillaume Velasco, Claire Francastel, Damien Ulveling, Andrea Ciolfi, Simone Pizzi, Marco Tartaglia, Solveig Heide, Delphine Héron, Cyril Mignot, Boris Keren, Sandra Whalen, Alexandra Afenjar, Thierry Bienvenu, Philippe M. Campeau, Justine Rousseau, Michael A. Levy, Lauren Brick, Mariya Kozenko, Tugce B. Balci, Victoria Mok Siu, Alan Stuart, Mike Kadour, Jennifer Masters, Kyoko Takano, Tjitske Kleefstra, Nicole de Leeuw, Michael Field, Marie Shaw, Jozef Gecz, Peter J. Ainsworth, Hanxin Lin, David I. Rodenhiser, Michael J. Friez, Matt Tedder, Jennifer A. Lee, Barbara R. DuPont, Roger E. Stevenson, Steven A. Skinner, Charles E. Schwartz, David Genevieve, Bekim Sadikovic |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 10 | 24% |
Canada | 6 | 14% |
Germany | 3 | 7% |
Israel | 2 | 5% |
Netherlands | 2 | 5% |
France | 1 | 2% |
United Kingdom | 1 | 2% |
Switzerland | 1 | 2% |
Spain | 1 | 2% |
Other | 0 | 0% |
Unknown | 15 | 36% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 21 | 50% |
Scientists | 18 | 43% |
Practitioners (doctors, other healthcare professionals) | 2 | 5% |
Science communicators (journalists, bloggers, editors) | 1 | 2% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 198 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 35 | 18% |
Student > Ph. D. Student | 22 | 11% |
Student > Master | 15 | 8% |
Other | 13 | 7% |
Student > Postgraduate | 11 | 6% |
Other | 29 | 15% |
Unknown | 73 | 37% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 54 | 27% |
Medicine and Dentistry | 23 | 12% |
Agricultural and Biological Sciences | 12 | 6% |
Neuroscience | 5 | 3% |
Computer Science | 3 | 2% |
Other | 19 | 10% |
Unknown | 82 | 41% |