Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statisticsAlvaro Barbeira, Eleazar Eskin, Eli A. Stahl et al.|Nature Communications|2018Cited by 1.2k
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B. Cummings, Daniel G. MacArthur, Jamie L. Marshall et al.|Science Translational Medicine|2017Cited by 809
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
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
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Nigel G. Laing, Sarah A. Sandaradura et al.|Journal of Clinical Investigation|2014Cited by 204