Eleanor G. Seaby

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

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature.

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

D. MacArthur, K. Karczewski, H. Rehm, 2023, medRxiv.

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2019, bioRxiv.

Transcript expression-aware annotation improves rare variant interpretation

Jonathan M. Mudge, Ryan L. Collins, Beryl B. Cummings, 2020, Nature.

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

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2021, Nature.

Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

H. Rehm, A. O’Donnell-Luria, E. Seaby, 2021, Frontiers in Genetics.