Christopher J. Lelliott

Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

The paper investigates KPTN-related disorder using mouse and human stem cell models, identifying mTOR pathway dysregulation as a key mechanism underlying cognitive and overgrowth phenotypes.

Osteocyte Transcriptome Mapping Identifies a Molecular Landscape Controlling Skeletal Homeostasis and Susceptibility to Skeletal Disease

The paper maps the osteocyte transcriptome in mice, identifies 1239 genes, and links them to skeletal disease susceptibility in humans.

Accelerating functional gene discovery in osteoarthritis

The paper identifies 14 genes involved in osteoarthritis using mutant mice and validates their role through functional studies and genome editing.

Decoding the genomic basis of osteoarthritis

This study identifies molecular subgroups of osteoarthritis and develops a 7-gene classifier to stratify patients, while uncovering potential therapeutic compounds.

Human and mouse essentiality screens as a resource for disease gene discovery

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.

An Atlas of Human and Murine Genetic Influences on Osteoporosis

This paper identifies 518 genetic loci associated with bone mineral density and fracture risk, validates causal genes in mice, and provides insights for osteoporosis drug development.

Multiple laboratory mouse reference genomes define strain specific haplotypes and novel functional loci

The paper presents full-length de novo genome assemblies for 16 inbred mouse strains, identifying strain-specific haplotypes and novel functional loci, including a large unannotated gene with potential developmental roles.