Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicineDimitri J. Stavropoulos, Cheryl Shuman, Lauren Chad et al.|npj Genomic Medicine|2016Cited by 377
Deletion of 15q11.2(BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric populationBita Hashemi, Melissa T. Carter, Victoria Mok Siu et al.|American Journal of Medical Genetics Part A|2015Cited by 69