Kristen M. Connolly
Broad Institute(US)Trinity College Dublin(IE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Genomic variations and chromosomal abnormalities, Genetic Associations and Epidemiology, RNA and protein synthesis mechanisms
Most-Cited Works
- → The mutational constraint spectrum quantified from variation in 141,456 humans(2020)9,854 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)1,131 cited
- → Genetic Diversity and Protective Efficacy of the RTS,S/AS01 Malaria Vaccine(2015)444 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
- → Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes(2024)166 cited
- → Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes(2020)138 cited
- → The effect of LRRK2 loss-of-function variants in humans(2020)109 cited