Molecular Findings Among Patients Referred for Clinical Whole-Exome SequencingYaping Yang, Christine M. Eng, Patricia A. Ward et al.|JAMA|2014Cited by 1.4k
Newborn Sequencing in Genomic Medicine and Public HealthJonathan S. Berg, Anastasia L. Wise, Pankaj B. Agrawal et al.|PEDIATRICS|2017Cited by 235
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseasesFrancisco M. De La Vega, Stephen F. Kingsmore, Shimul Chowdhury et al.|Genome Medicine|2021Cited by 154