Gavin Arno

The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.

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.

This study identifies six rare variants in NR6A1 in six families with oculo-vertebral-renal syndrome, demonstrating their pathogenicity through in silico, cellular, and zebrafish experiments.

The paper uses long-read RNA sequencing to analyze CLN3 transcription complexity and the impact of a common 1-kb deletion in juvenile CLN3 disease, revealing multiple transcripts and isoforms.

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

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

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

The paper identifies NTE activity as a biomarker for retinopathy and endocrinopathy in PNPLA6 disorders, using clinical and preclinical data to establish a genotype-activity-phenotype relationship.

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

The paper shows that Zfp503 is essential for RPE differentiation and optic fissure closure, with loss of function leading to uveal coloboma and altered gene expression in developing mouse eyes.

The paper identifies INPP5E variants in non-syndromic retinal degenerations, expanding the known phenotypic spectrum of this ciliary gene.

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.

Phenogenon identifies gene-phenotype associations in rare genetic diseases by integrating phenotype ontologies, variant frequency data, and pathogenicity scores, uncovering both known and novel relations.

The paper identifies new pathogenic GRK1 variants in Oguchi disease and evaluates their impact on protein structure using bioinformatics tools.

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 identifies complex structural variants in Mendelian disorders using short-read and long-read sequencing, showing their clinical significance and the utility of long-read technology for resolution.

The paper identifies two duplications at the MCDR3 locus associated with North Carolina macular dystrophy, refining the disease-causing region and showing expression of IRX1 and ADAMTS16 in fetal retina.

Pheno4J stores and queries genetic and phenotypic data in a graph database to improve efficiency for clinical genetic research.

Phenopolis provides an open platform for integrating and analyzing sequencing and phenotype data to aid in clinical diagnosis and gene discovery.