Alfredo Dueñas Rey

A proteogenomic atlas of the human neural retina

The paper generates a proteogenomic atlas of the human neural retina using long-read RNA-sequencing and mass spectrometry, identifying novel transcript isoforms and peptides.

Pushing the limits of single molecule transcript sequencing to uncover the largest disease-associated transcript isoforms in the human neural retina

The paper uses long-read sequencing and cDNA capture to sequence large transcripts associated with Usher syndrome in the human neural retina, identifying novel isoforms and splicing events.

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

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

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

The paper compares 3D genome structures between neural retina and RPE to identify tissue-specific cis-regulatory interactions at retinal disease loci.

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

The paper identifies ultraconserved cis-regulatory elements in the human retina linked to rare eye diseases through multi-omics analysis and genomic variant mining.

Nigral Transcriptomic Profiles in Engrailed-1 Hemizygous Mouse Models of Parkinson's Disease Reveal Upregulation of Oxidative Phosphorylation-Related Genes Associated with Resistance to Dopaminergic Neurodegeneration

This paper compares transcriptomic profiles in En1-hemizygous mice to identify gene expression differences linked to susceptibility to Parkinson's-like neurodegeneration.

CEP162 deficiency causes human retinal degeneration and reveals a dual role inciliogenesis and neurogenesis

The paper shows that CEP162 deficiency causes retinal degeneration by impairing ciliary function, while retaining a role in neurogenesis.

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

This study identifies cis-regulatory elements and non-coding variants associated with North Carolina macular dystrophy using multi-omics and enhancer assays.

Loss of zebrafish ctnnd2b results in disorganised forebrain neuron clusters

This study shows that heterozygous loss of ctnnd2b in zebrafish leads to disorganised and imbalanced neuronal subtypes in the forebrain.