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, Bhooma Thiruvahindrapuram et al.|Genetics in Medicine|2017Cited by 563
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicineDimitri J. Stavropoulos, Cheryl Shuman, Daniele Merico et al.|npj Genomic Medicine|2016Cited by 377
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)Melissa T. Carter, Hilary Vallance, Myriam Srour et al.|Journal of Medical Genetics|2023Cited by 57