Title |
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
|
---|---|
Published in |
New England Journal of Medicine, September 2012
|
DOI | 10.1056/nejmoa1200395 |
Pubmed ID | |
Authors |
Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino, Marjan M Nezarati, Alexander Asamoah, Kelly E Jackson, Gordon C Gowans, Judith A Martin, Erin P Carmany, David W Stockton, Rhonda E Schnur, Lynette S Penney, Donna M Martin, Salmo Raskin, Kathleen Leppig, Heidi Thiese, Rosemarie Smith, Erika Aberg, Dmitriy M Niyazov, Luis F Escobar, Dima El-Khechen, Kisha D Johnson, Robert R Lebel, Kiana Siefkas, Susie Ball, Natasha Shur, Marianne McGuire, Campbell K Brasington, J Edward Spence, Laura S Martin, Carol Clericuzio, Blake C Ballif, Lisa G Shaffer, Evan E Eichler |
Abstract |
Some copy-number variants are associated with genomic disorders with extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 14 | 36% |
Uzbekistan | 1 | 3% |
Switzerland | 1 | 3% |
Palestine, State of | 1 | 3% |
Brazil | 1 | 3% |
United Kingdom | 1 | 3% |
Spain | 1 | 3% |
Ireland | 1 | 3% |
Venezuela, Bolivarian Republic of | 1 | 3% |
Other | 0 | 0% |
Unknown | 17 | 44% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 23 | 59% |
Scientists | 10 | 26% |
Practitioners (doctors, other healthcare professionals) | 4 | 10% |
Science communicators (journalists, bloggers, editors) | 2 | 5% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 11 | 2% |
Italy | 5 | 1% |
United Kingdom | 3 | <1% |
Netherlands | 2 | <1% |
France | 2 | <1% |
Brazil | 2 | <1% |
Spain | 2 | <1% |
Portugal | 1 | <1% |
India | 1 | <1% |
Other | 6 | 1% |
Unknown | 424 | 92% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 106 | 23% |
Researcher | 89 | 19% |
Student > Master | 49 | 11% |
Student > Doctoral Student | 30 | 7% |
Professor > Associate Professor | 28 | 6% |
Other | 107 | 23% |
Unknown | 50 | 11% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 114 | 25% |
Medicine and Dentistry | 107 | 23% |
Biochemistry, Genetics and Molecular Biology | 82 | 18% |
Neuroscience | 32 | 7% |
Psychology | 21 | 5% |
Other | 38 | 8% |
Unknown | 65 | 14% |