A genomic mutational constraint map using variation in 76,156 human genomesSiwei Chen, Lori L. Bonnycastle, Timothy Poterba et al.|Nature|2023Cited by 1.4k
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomesSiwei Chen, Lori L. Bonnycastle, Laurent C. Francioli et al.|Nature|2024Cited by 196
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesQingbo S. Wang, Ben Weisburd, Emma Pierce‐Hoffman et al.|Nature Communications|2020Cited by 143
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomaliesChelsea Lowther, Michael E. Talkowski, Elise Valkanas et al.|The American Journal of Human Genetics|2023Cited by 57
Systematic evaluation of genome sequencing for the assessment of fetal structural anomaliesChelsea Lowther, Michael E. Talkowski, Elise Valkanas et al.|bioRxiv (Cold Spring Harbor Laboratory)|2020Cited by 12