Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathwaysElizabeth T. Cirulli, Wendy K. Chung, Lindsay L. Waite et al.|Science|2015Cited by 980
Transcriptional recapitulation and subversion of embryonic colon development by mouse colon tumor models and human colon cancerSérgio Kaiser, Bruce J. Aronow, Young Kyu Park et al.|Genome biology|2007Cited by 343
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
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