Clinical Interpretation and Implications of Whole-Genome SequencingFrederick E. Dewey, Thomas Quertermous, Jason D. Merker et al.|JAMA|2014Cited by 458
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderMonika Oláhová, Heidi Cope, Wan Hee Yoon et al.|The American Journal of Human Genetics|2018Cited by 107
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence DataFrederick E. Dewey, Euan A. Ashley, Megan E. Grove et al.|PLoS Genetics|2015Cited by 23