Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesLoren D.M. Peña, Lorraine Potocki, Sujay Kansagra et al.|Genetics in Medicine|2017Cited by 52
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceKelly Schoch, Jennifer E. Posey, Cecilia Esteves et al.|Genetics in Medicine|2020Cited by 42
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseasesJennifer Kyle, Joan M. Stoler, Kelly G. Stratton et al.|Scientific Data|2021Cited by 18
One is the loneliest number: genotypic matchmaking using the electronic health recordElly Brokamp, David B. Goldstein, Mary Koziura et al.|Genetics in Medicine|2021Cited by 7