A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disordersZornitza Stark, Susan M. White, Tiong Yang Tan 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
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndromeTiong Yang Tan, Gregory B. Peters, Anne Slavotinek et al.|Journal of Medical Genetics|2009Cited by 135
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencingKaren Stals, Sian Ellard, Matthew N. Wakeling et al.|Prenatal Diagnosis|2017Cited by 78