MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human GenomeJulia Wang, David J. Eckstein, Rami Al‐Ouran et al.|The American Journal of Human Genetics|2017Cited by 223
The Undiagnosed Diseases Network: Accelerating Discovery about Health and DiseaseRachel Ramoni, David D. Draper, John J. Mulvihill et al.|The American Journal of Human Genetics|2017Cited by 188
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3Hsiao‐Tuan Chao, Laurel A. Donnell‐Fink, Mariska Davids et al.|The American Journal of Human Genetics|2016Cited by 122
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeVandana Shashi, Jennifer E. Posey, Satu Korpi-Heikkilä et al.|The American Journal of Human Genetics|2016Cited by 87
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negativeVandana Shashi, Shweta U. Dhar, Kelly Schoch et al.|Genetics in Medicine|2018Cited by 81