Kathleen Tibbetts
Genomics and Rare Diseases · Genetics
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No NSF/NIH grants on record.
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Recent Publications
Last latest available · showing 15 of 15Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature · 2024-01-15 · 184 citations
A genomic mutational constraint map using variation in 76,156 human genomes
Nature · 2023-12-06 · 1333 citations
A genome-wide mutational constraint map quantified from variation in 76,156 human genomesPreprint
bioRxiv (Cold Spring Harbor Laboratory) · 2022-03-21 · 325 citations
Nature Communications · 2021-12-01 · 1 citations
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Nature · 2021-08-09 · 63 citations
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
Nature · 2021-02-03 · 98 citations
Nature Communications · 2021-02-02 · 1 citations
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Nature Communications · 2021-02-02 · 3 citations
Nature · 2021-01-01 · 4 citations
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Nature Communications · 2020-05-27 · 191 citations
The mutational constraint spectrum quantified from variation in 141,456 humans
Nature · 2020-05-27 · 10135 citations
Transcript expression-aware annotation improves rare variant interpretation
Nature · 2020-05-27 · 202 citations
The effect of LRRK2 loss-of-function variants in humans
Nature Medicine · 2020-05-27 · 113 citations
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Nature Communications · 2020-05-27 · 143 citations
A structural variation reference for medical and population genetics
Nature · 2020-05-27 · 1165 citations