Michel Michaelides

This study develops an allele-specific antisense oligonucleotide to target EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy, reducing extracellular deposits and intracellular lipid accumulation.

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

The paper presents a framework for prioritizing targets and patients for antisense oligonucleotide therapies in rare diseases, focusing on equitable and systematic decision-making.

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 examines hierarchical cortical plasticity in congenital sight impairment by comparing rod-only and typically developed visual systems, finding stability in early stages and compensatory reorganization in higher-order cortex.

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.

SVRare improves the discovery of disease-causing structural variants by aggregating and annotating rare variants from whole genome sequencing data in the 100K Genomes Project.

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

This study shows ATF6 is essential for human cone photoreceptor development and demonstrates that ATF6 activators can restore cone growth in patient-derived retinal organoids.

The paper identifies loss of lateral inhibition as a mechanism reducing visual function in macular degeneration and suggests modulating this inhibition could improve vision.

This study assesses the repeatability and interocular symmetry of foveal outer nuclear layer thickness in achromatopsia patients and controls, finding reduced thickness in patients but high symmetry.

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.