Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testAnath C. Lionel, Peter N. Ray, Gregory Costain et al.|Genetics in Medicine|2017Cited by 563
Experiences of caregivers of children with inherited metabolic diseases: a qualitative studyShabnaz Siddiq, Beth K. Potter, Sara D. Khangura et al.|Orphanet Journal of Rare Diseases|2016Cited by 73