Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular DystrophyAngela Lek, Terence R. Flotte, Brenda Wong et al.|New England Journal of Medicine|2023Cited by 302
Genome Sequencing for Diagnosing Rare DiseasesMonica H. Wojcik, Daniel G. MacArthur, Volker Straub et al.|New England Journal of Medicine|2024Cited by 186
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
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Catheline Vilain, Alison M. Barnard et al.|The American Journal of Human Genetics|2021Cited by 41
Unexpected Death of a Duchenne Muscular Dystrophy Patient in an N-of-1 Trial of rAAV9-delivered CRISPR-transactivatorAngela Lek, Terence R. Flotte, Brenda Wong et al.|medRxiv|2023Cited by 34