Ruchi Munshi
Broad Institute(US)St David's Medical Center(US)Scripps Clinic(US)Texas Cardiac Arrhythmia(US)MetroHealth Medical Center(US)Case Western Reserve University(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Genomics and Chromatin Dynamics
Most-Cited Works
- → The mutational constraint spectrum quantified from variation in 141,456 humans(2020)9,856 cited
- → A genomic mutational constraint map using variation in 76,156 human genomes(2023)1,193 cited
- → A structural variation reference for medical and population genetics(2020)1,132 cited
- → A genome-wide mutational constraint map quantified from variation in 76,156 human genomes(2022)324 cited
- → Transcript expression-aware annotation improves rare variant interpretation(2020)200 cited
- → Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals(2020)189 cited