Leslie A. Lyons

This study assesses the reproducibility of pathogenicity classification using the animal variant classification guidelines across three species, finding 65% reproducibility for pathogenicity and 83% clinically relevant agreement.

The paper identifies a homozygous LDLR variant in Korat cats causing atherosclerosis, providing a model for studying human LDLR-related hypercholesterolemia and potential gene-editing therapies.

This paper develops and validates variant classification guidelines for animals, improving the accuracy of pathogenicity assessment in cats and eight other species.

This study uses a dense genotyping array to identify genome-wide associations for three complex feline diseases in a multi-breed cohort of cats.

This paper presents a domestic cat whole exome sequencing resource, demonstrating its effectiveness in identifying known and novel disease-associated variants across various breeds.

The paper presents a new domestic cat genome assembly using long-read sequencing, identifies novel variants associated with cancer and dwarfism, and highlights the utility of feline genomics for biomedical research.

The paper identifies variants in the Hairless gene associated with hypotrichia and roaning in lykoi cats by comparing whole genome sequencing data from a lykoi cat to a non-lykoi dataset.

The paper identifies a 7 bp deletion in GDF7 causing a heritable forebrain commissural malformation in cats, validated through genomic analysis and pedigree studies.

This study identifies a novel gene region associated with feline disproportionate dwarfism, suggesting a potential model for human undiagnosed dwarfism cases.