Kim C. Worley

Cross-Species Efficacy of Combinatorial Gene Therapy for Osteoarthritis and Correction of Neuro-Inflammatory Pain Mechanisms

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

The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics

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.

Identification of Sensory Fiber Types in Mouse Temporomandibular Joint Tissues

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

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

The paper reports seven individuals with PLCG1 variants causing hearing, vision, cardiac, and immune issues, and shows these variants have gain-of-function effects in Drosophila models.

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

This study identifies de novo ATP5F1A variants causing neurological disorders through dominant negative mechanisms, expanding the known phenotypic and genotypic spectrum of complex V deficiency.

The SHR/Akr Y chromosome reveals repeated turnover of the rat pseudoautosomal region

The paper sequences the rat Y chromosome and reveals a short pseudoautosomal region with high recombination rate and unique evolutionary features.

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

Clinical exome sequencing for stroke evaluation uncovers a high frequency of Mendelian disorders: a retrospective analysis.

This study evaluates the use of clinical exome sequencing in stroke patients, finding a high frequency of Mendelian disorders in a retrospective cohort.

A comparative study of structural variant calling strategies using the Alzheimer's Disease Sequencing Project's whole genome family data

The paper evaluates deletion calling accuracy using two pipelines on ADSP whole genome family data, finding Scalpel better for small deletions and Parliament for larger ones, with 78.1% of predicted deletions validated by Sanger sequencing.

Consultagene: Pre- and Post-Pandemic Experience with a Web-based Platform and Remote Delivery of Genetic Services

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

Global analysis of transcription start sites in the new ovine reference genome (Oar rambouillet v1.0)

The paper performs a global analysis of transcription start sites (TSS) in the ovine reference genome using CAGE sequencing, identifying novel TSS and validating them with bisulfite sequencing.

Genome-enabled insights into the biology of thrips as crop pests

The paper presents the first genome sequence for a thysanopteran insect, providing insights into its biology and evolution as a crop pest.

Gene Content Evolution in the Arthropods

The paper analyzes gene and protein domain content changes across 76 arthropod genomes to understand evolutionary patterns and their association with phenotypic adaptations.

Molecular evolutionary trends and feeding ecology diversification in the Hemiptera, anchored by the milkweed bug genome

The paper presents the milkweed bug genome and comparative analyses to study molecular evolution and feeding ecology in Hemiptera.

The genome of the water strider Gerris buenoi reveals expansions of gene repertoires associated with adaptations to life on the water

The paper reports the sequencing and manual annotation of the Gerris buenoi genome, identifying gene expansions linked to adaptations for aquatic life.

The house spider genome reveals an ancient whole-genome duplication during arachnid evolution

The paper analyzes the house spider genome to identify an ancient whole-genome duplication shared by spiders and scorpions, distinct from horseshoe crab duplications.