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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
Genome-wide detection of tandem DNA repeats that are expanded in autismBrett Trost, Ryan K. C. Yuen, Giovanna Pellecchia et al.|Nature|2020Cited by 259