A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disordersZornitza Stark, Susan M. White, Alison Yeung 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
Integrated multi-omics for rapid rare disease diagnosis on a national scaleSebastian Lunke, Zornitza Stark, Sophie E. Bouffler et al.|Nature Medicine|2023Cited by 140