Shamil R. Sunyaev
Broad Institute(US)Harvard University(US)Stanford Medicine(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetic Associations and Epidemiology, Genomics and Phylogenetic Studies, DNA Repair Mechanisms
Most-Cited Works
- → Extremely low-coverage sequencing and imputation increases power for genome-wide association studies(2012)322 cited
- → Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation(2012)243 cited
- → Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis(2013)232 cited
- → Sequence similarity‐driven proteomics in organisms with unknown genomes by LC‐MS/MS and automated de novo sequencing(2007)97 cited
- → An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery(2018)29 cited
- → FAVOR 2.0: A reengineered functional annotation of variants online resource for interpreting genomic variation(2025)1 cited
- → A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort(2025)