Eleanor G. Seaby

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2019 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen, Laurent C. Francioli, Julia K. Goodrich et al. · Nature · 2023 · 1.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Treatment of Multisystem Inflammatory Syndrome in Children

Andrew McArdle, Ortensia Vito, Harsita Patel et al. · New England Journal of Medicine · 2021 · 367 citations · Full text

Medicine, Infectious Diseases, Pediatrics +16

Collagen (<i>COL4A</i>) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

Christine Gast, Reuben J. Pengelly, Matthew Lyon et al. · Nephrology Dialysis Transplantation · 2015 · 254 citations · Full text

Medicine, Genetics, Molecular Genetics +17