A. Ross

Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer

The paper quantifies phenotypic specificity of rare FH variants in HLRCC and renal cancer using likelihood ratios from clinical and population data.

Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

The paper develops a framework for classifying variants of reduced penetrance in cancer susceptibility genes to improve variant interpretation consistency.

Field evaluation of a volatile pyrethroid spatial repellent and etofenprox-treated clothing for outdoor protection against forest malaria vectors in Cambodia

This study evaluates volatile pyrethroid spatial repellents and etofenprox-treated clothing for reducing Anopheles landings in Cambodia, finding substantial protective efficacies and significant reductions in vectorial capacity.

Bacterial diversity dominates variable macrophage responses of tuberculosis patients in Tanzania

The study infects macrophages from tuberculosis patients with different MTBC lineages to show that bacterial phylogenetic diversity, not local adaptation, drives variable macrophage responses.

Regenerative and non-regenerative transcriptional states of the human epicardium: from foetus to adult and backagain

This study compares foetal and adult human epicardium using single-cell RNA sequencing to identify regenerative programs and their absence in adults, suggesting ways to enhance cardiac regeneration.

Human neonatal B cell immunity differs from the adult version by conserved Ig repertoires and rapid, but transient response dynamics

This study shows that human cord blood B cells are mature and functional but have distinct transcriptional programs and rapid, transient response dynamics compared to adult B cells.

CD8+ T-cell transcription and DNA methylation show age specific differences and lack correlation with clinical outcome in pediatric Inflammatory Bowel Disease

The paper examines CD8+ T-cell gene expression and DNA methylation in pediatric IBD patients, finding age-related differences but no correlation with clinical outcomes.

Single-cell sequencing of developing human gut reveals transcriptional links to childhood Crohns disease

The paper maps the developing human gut at 6-10 weeks post-conception using single-cell sequencing and links fetal transcriptional patterns to childhood Crohn's disease.

The Evolution of Fluoroquinolone-Resistance in Mycobacterium tuberculosis is Modulated by the Genetic Background

This study shows that the genetic background of Mycobacterium tuberculosis significantly affects the evolution of fluoroquinolone resistance in both in vitro experiments and clinical isolates.