Emma Pierce‐Hoffman
Broad Institute(US)Massachusetts General Hospital(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genomics and Phylogenetic Studies, Genetic Associations and Epidemiology, CRISPR and Genetic Engineering
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)9,856 cited
- → Regional missense constraint improves variant deleteriousness prediction(2017)391 cited
- → Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes(2020)138 cited
- → Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans(2021)97 cited
- → Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans(2021)57 cited
- → Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death(2023)57 cited
- → Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies(2023)52 cited