Kristen M. Laricchia

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

A structural variation reference for medical and population genetics

Ryan L. Collins, Harrison Brand, Konrad J. Karczewski et al. · Nature · 2020 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

Amelie T. van der Ven, Dervla M. Connaughton, Hadas Ityel et al. · Journal of the American Society of Nephrology · 2018 · 210 citations

Medicine, Genetics, Molecular Genetics +17