Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Swati Naik, Kaitlin E. Samocha et al.|Nature|2020Cited by 672
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disordersZornitza Stark, Susan M. White, Shannon Cowie et al.|Genetics in Medicine|2016Cited by 411
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic ConditionsTiong Yang Tan, Susan M. White, Oliver James Dillon et al.|JAMA Pediatrics|2017Cited by 327
Meeting the challenges of implementing rapid genomic testing in acute pediatric careZornitza Stark, Susan M. White, Sebastian Lunke et al.|Genetics in Medicine|2018Cited by 162
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disordersTiong Yang Tan, Oliver James Dillon, Sebastian Lunke et al.|European Journal of Human Genetics|2018Cited by 131