| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics |  | | 2016 | 749 | 354 |
|
| Next generation diagnostics on cardiomyopathy | Molecular cytogenetics | | | 2014 | 681 | 219 |
|
| Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders | Clinical genetics |  | | 2014 | 751 | 0 |
|
| Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia | American journal of human genetics | | | 2013 | 590 | 0 |
|
