Jamie M. Ellingford

This study examines ancestry-related differences in variant prioritisation and diagnostic outcomes in the UK 100,000 Genomes Project, finding disparities in positive predictive value and variant of uncertain significance frequencies across groups.

The paper creates a genome-wide map of homozygous deletions in 125,730 individuals, identifying novel rare disease genes and variants.

The paper investigates YAP1 variants' role in ocular coloboma using in vitro and organoid studies, showing how missense variants affect YAP1-TEAD binding and transcriptional activity.

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

The paper uses blood-based RNA-Seq on 5,412 individuals with rare diseases to identify new candidate diagnoses and shows its utility in prioritizing genetic variants.

The paper identifies HTRA1-AS1 as a genetic risk factor for AMD through transcriptome-wide association and fine-mapping analyses.

This study identifies PRPF8 as essential for left-right organiser cilia function and cardiac asymmetry by regulating ARL13B splicing in mice and zebrafish.

The paper identifies regional nonsense constraint in the human genome using sequencing data, showing enriched de novo variants in constrained regions linked to rare diseases.

This study identifies biallelic DAP3 variants causing mitoribosomal dysfunction, leading to combined oxidative phosphorylation deficiency and Perrault syndrome-like features.

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

The paper identifies 11 likely pathogenic 5'UTR variants in IRD genes using a prioritization strategy and functional validation.

This study identifies disease-causing promoter and untranslated region variants in 8,040 undiagnosed rare disease patients using a new framework and finds 12 variants with potential pathogenicity.

The paper re-analyzes clinical aCGH data to identify pathogenic copy number losses, finding that 7.2% of class 3 variants were reclassified as pathogenic or likely pathogenic.

EyeG2P improves diagnostic genomic testing efficiency for inherited ophthalmic disorders by increasing precision while maintaining high sensitivity.

The paper identifies intergenic duplications at Xq26.1 as the genetic cause of Bazex-Dupre-Christol syndrome, linking them to ARHGAP36 dysregulation and BCC susceptibility.

This paper provides recommendations for interpreting non-coding variants in clinical settings, adapting existing guidelines to account for their role in disease.

The paper introduces MRSD, a metric to determine optimal RNA-seq depth and tissue for assessing splicing variants in Mendelian diseases, showing LCLs are best for most gene panels.

The paper investigates the association between gene expression variability and incomplete penetrance in inherited eye disorders using genomic and transcriptomic data.

This paper develops an in-silico and functional analysis framework to identify splicing mutations in rare genomic disorders, finding that SpliceAI prioritization improves diagnostic clarity and yield.

The paper uses whole genome sequencing to identify disease-causing variants in non-coding regions of genes, confirming diagnoses of Cystic Fibrosis and Primary Ciliary Dyskinesia.

The paper identifies inherited BRCA1 promoter hypermethylation as a novel cause of breast and ovarian cancer in two families without germline BRCA1/2 pathogenic variants.