Concepedia

Laura D. Gauthier

LD

Statistics

Publications

43

Citations

31.6K

H-Index

31

Active since

2002

Affiliations

Broad Institute(Current)

Massachusetts General Hospital

Harvard University

Institute for Molecular Medicine Finland

Murdoch Children's Research Institute

Laura D. Gauthier is an author at Broad Institute specializing in life sciences, genetics, and genomics.

Publications per year

2002–2025

43

Publications

43

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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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

, , +17

Scaling accurate genetic variant discovery to tens of thousands of samples

Ryan Poplin, Valentín Ruano-Rubio, Mark A. DePristo et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2017 · 2.1K citations · Full text

, , +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

, , +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

, , +14

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