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
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
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeVandana Shashi, Jennifer E. Posey, Loren D.M. Peña et al.|The American Journal of Human Genetics|2016Cited by 87