Brendan Lee

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

This study identifies impaired luteal resolution and CHK2-regulated inflammation as features of ovarian aging in mice, showing that CHK2 inhibition can reverse these effects.

The paper identifies biallelic KMO variants as a novel cause of congenital NAD deficiency and shows gene x environment interactions in a mouse model.

A combinatorial gene therapy targeting inflammation and chondrocyte health slows OA progression and reduces pain in murine and equine models.

This study shows that switching adenovirus serotypes for repeated gene therapy in osteoarthritis improves cartilage preservation but not functional outcomes.

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

This study evaluates ultra-high-depth RNA-seq for Mendelian disorder diagnostics, showing improved detection of low-abundance transcripts and splicing variants, and introduces a resource to guide sequencing depth selection.

This study identifies validated genetic and tracer tools to map knee-innervating neurons, aiding in understanding joint pain mechanisms.

The paper introduces a standardized, open-source protocol for noninvasive joint injury in mice, resulting in post-traumatic osteoarthritis, and provides tools for reproducibility and analysis.

This study identifies sensory fiber types in mouse TMJ tissues using immunohistochemistry, finding peptidergic fibers dominate with minimal non-peptidergic nociceptors.

The paper introduces KneEZ Clear, an aqueous-based tissue clearing method for musculoskeletal tissues that preserves fluorescence and avoids equipment requirements.

This study optimizes tissue clearing and imaging methods to achieve high-resolution 3D visualization of the vasculature in adult murine knee tissues.

This study validates a clinical RNA-seq test for diagnosing Mendelian disorders using 150 samples, achieving over 99% sensitivity and specificity.

This study examines tendon and motor phenotypes in Crtap-/- mice, finding thinner tendons, altered collagen structure, and motor impairments linked to tendon/ligament dysfunction in OI.

Consultagene provides a virtual platform for genetic care, counseling, and education, adapting to pandemic challenges and expanding access to genetic services.

This study identifies COPB2 haploinsufficiency as a cause of a coatopathy with osteoporosis and developmental delay, showing disrupted collagen trafficking and potential treatment with ascorbic acid.

The paper identifies ATRAID as a gene critical for the response to nitrogen-containing bisphosphonates, showing its role in drug efficacy and resistance in osteoporosis.

This study describes the dental and craniofacial characteristics of OI type V, finding missing permanent teeth but not dentinogenesis imperfecta, and a distinct craniofacial phenotype compared to other OI types.

The paper investigates 17p13.3 deletions between YWHAE/CRK and PAFAH1B1, identifying white matter lesions and hypermobility, and narrows the critical region to 345 kb with RTN4RL1 as a candidate gene.

The paper identifies additional DDX3X variants in individuals with intellectual disability and expands the known phenotypic spectrum of DDX3X disorders.

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.