| Title |
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
|
|---|---|
| Published in |
Genetics in Medicine, March 2021
|
| DOI | 10.1038/s41436-021-01146-5 |
| Pubmed ID | |
| Authors |
Monica H. Wojcik, Tian Zhang, Ozge Ceyhan-Birsoy, Casie A. Genetti, Matthew S. Lebo, Timothy W. Yu, Richard B. Parad, Ingrid A. Holm, Heidi L. Rehm, Alan H. Beggs, Robert C. Green, Pankaj B. Agrawal, Pankaj B. Agrawal, Alan H. Beggs, Wendi N. Betting, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Dmitry Dukhovny, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Chet Graham, Robert C. Green, Amanda M. Guiterrez, Maegan Harden, Ingrid A. Holm, Joel B. Krier, Matthew S. Lebo, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Amy L. McGuire, Jaclyn B. Murry, Medha Naik, Tiffany T. Nguyen, Richard B. Parad, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Heidi L. Rehm, Amy Roberts, Jill O. Robinson, Serguei Roumiantsev, Talia S. Schwartz, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren, Timothy W. Yu |
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X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 8 | 44% |
| Spain | 3 | 17% |
| India | 1 | 6% |
| Saudi Arabia | 1 | 6% |
| Unknown | 5 | 28% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 9 | 50% |
| Members of the public | 5 | 28% |
| Science communicators (journalists, bloggers, editors) | 2 | 11% |
| Practitioners (doctors, other healthcare professionals) | 2 | 11% |
Mendeley readers
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 70 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 9 | 13% |
| Other | 6 | 9% |
| Student > Ph. D. Student | 5 | 7% |
| Student > Bachelor | 4 | 6% |
| Student > Postgraduate | 4 | 6% |
| Other | 11 | 16% |
| Unknown | 31 | 44% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 14 | 20% |
| Biochemistry, Genetics and Molecular Biology | 7 | 10% |
| Nursing and Health Professions | 4 | 6% |
| Unspecified | 2 | 3% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 3% |
| Other | 4 | 6% |
| Unknown | 37 | 53% |