An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A. Brownstein, Claudia Gugenmus, Alan H. Beggs et al.|Genome biology|2014Cited by 432
Mapping and characterization of structural variation in 17,795 human genomesHaley Abel, Ira M. Hall, David E. Larson et al.|Nature|2020Cited by 356
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal ArthrogryposisBertrand Coste, Ardem Patapoutian, Gunnar Houge et al.|Proceedings of the National Academy of Sciences|2013Cited by 237
Exome sequencing of Finnish isolates enhances rare-variant association powerAdam E. Locke, Nelson B. Freimer, Laura J. Scott et al.|Nature|2019Cited by 217
Targeting immune–fibroblast cell communication in heart failureJunedh Amrute, Kory J. Lavine, Xin Luo et al.|Nature|2024Cited by 198