Philip L. Beales

De-suppression of mesenchymal cell identities and variable phenotypic outcomes associated with knockout of Bbs1.

The paper investigates the role of BBS1 in suppressing mesenchymal cell identities in epithelial cells, showing clonal variability and dysregulation of EMT genes across tissues.

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

This study identifies IFT74 variants causing skeletal ciliopathy and motile cilia defects in humans and mice, revealing functional differences between motile and primary cilia.

MOPower: an R-shiny application for the simulation and power calculation of multi-omics studies.

MOPower is an R-shiny application that simulates multi-omics data and calculates power for association studies using various integration methods.

Inherited duplications of PPP2R3B promote naevi and melanoma via a novel C21orf91-driven proliferative phenotype

This study identifies inherited PPP2R3B duplications as a melanoma predisposing factor, revealing a C21orf91-driven proliferative phenotype in melanocytes.

Altered hematopoietic system and self-tolerance in Bardet-Biedl Syndrome

This study investigates immune and hematopoietic system alterations in Bardet-Biedl Syndrome patients and a mouse model, finding increased autoimmune disease incidence, elevated white blood cell counts, and B cell abnormalities.

Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

Population-scale proteome variation in human induced pluripotent stem cells

The paper characterizes proteome variation across 202 human iPSC lines, identifies 700 pQTLs, and links pQTLs to disease-associated GWAS variants.

Whole-genome sequencing of rare disease patients in a national healthcare system

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

Single-cell RNA-seq of differentiating iPS cells reveals dynamic genetic effects on gene expression

The paper uses single-cell RNA-seq of differentiating iPS cells from 125 donors to identify expression quantitative trait loci influencing gene expression during endoderm differentiation.

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

The paper identifies 285 candidate ciliary genes using integrated genomic, proteomic, and transcriptomic data, validated by experimental evidence and creating a resource for ciliopathy research.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

The paper identifies 9 novel genetic loci, including low-frequency variants in TP53, associated with head circumference and intracranial volume in up to 46,000 individuals.

Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill children

Rapid Paediatric Sequencing (RaPS) provides a workflow for rapid whole genome sequencing in critically ill children, achieving a 42% diagnostic rate with results available in as few as four days.