Anne O’Donnell‐Luria
Broad Institute(US)Broad Institute(US)Boston Children's Hospital(US)Harvard University(US)Baylor College of Medicine(US)McLean Hospital(US)Massachusetts General Hospital(US)Metabolon (United States)(US)Broad Center(US)Boston Children's Museum(US)Center for Systems Biology(US)Dana-Farber/Boston Children's Cancer and Blood Disorders Center(US)Massachusetts Institute of Technology(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Genetics and Neurodevelopmental Disorders, Cancer Genomics and Diagnostics
Most-Cited Works
- → Analysis of protein-coding genetic variation in 60,706 humans(2016)10,243 cited
- → The mutational constraint spectrum quantified from variation in 141,456 humans(2020)9,854 cited
- → A structural variation reference for medical and population genetics(2020)1,131 cited
- → Improving genetic diagnosis in Mendelian disease with transcriptome sequencing(2017)790 cited
- → Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria(2022)488 cited
- → Quantifying prion disease penetrance using large population control cohorts(2016)463 cited