Timothy J. Cherry

This study identifies miR-9-2 as a regulator of retinal progenitor cell competence and Müller glial identity, showing its role in timing cell specification and disease risk.

The paper designs cell type-specific enhancers using deep learning models trained on chromatin accessibility data and validates their function across human and mouse cell types.

The paper shows that deleting miR-9-2 causes cerebral hemorrhage and hydrocephalus by disrupting cell-type-specific gene networks in neurodevelopment.

The paper develops ML models to predict the impact of non-coding variants on cell-class-specific regulatory elements using single nucleus ATAC-seq data, achieving over 90% accuracy.

This paper demonstrates reliable mRNA delivery via lipid nanoparticles to specific retinal cells in mice and human ocular tissues without significant inflammation.

The paper trains a machine learning model on human retinal epigenomic data to predict the functional impact of non-coding regulatory variants.

The paper identifies cell-class-specific cis-regulatory elements in human retina and organoids, showing their correlation and function in development and disease.

The paper uses in vivo two-photon imaging to distinguish perivascular fibroblasts from mural cells in mouse cerebral cortex, revealing unique structural and distributional features.

This study identifies gene regulatory networks controlling retinal development by integrating single-cell RNA and ATAC-seq data from mouse and human retinas, revealing transcription factors that regulate temporal patterning and cell fate.

This paper introduces targeted long-read sequencing to identify complex structural variants and disease-causing mutations missed by conventional methods, improving diagnostic accuracy in genetic disorders.

The paper identifies cis-regulatory elements and their genetic variation in human retina, macula, and RPE using epigenomic profiling and single-nucleus RNA-seq.

The paper identifies non-coding mutations as a significant cause of RPGRIP1-mediated inherited retinal degeneration in patients with single coding mutations.