Last Updated: 09/26/2026
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Found 119 publications
Structure-Based Network Analysis of AlphaFold Structure Predictions Identifies Putative Causative Variants of Inherited Retinal Disease.
Journal: Investigative ophthalmology & visual science
Published: August 26, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.
Journal: medRxiv : the preprint server for health sciences
Published: July 03, 2026
Oxidative DNA damage drives apoptotic photoreceptor loss in NMNAT1-associated inherited retinal degeneration: a therapeutic opportunity.
Journal: Cell death & disease
Published: October 24, 2025
Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium.
Journal: Translational vision science & technology
Published: August 27, 2025
Low population penetrance of variants associated with inherited retinal degenerations.
Journal: American journal of human genetics
Published: August 05, 2025
Oxidative DNA Damage Drives Apoptotic Photoreceptor Loss in NMNAT1 -Associated Inherited Retinal Degeneration: A Therapeutic Opportunity.
Journal: bioRxiv : the preprint server for biology
Published: June 12, 2025
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Journal: Nature genetics
Published: June 02, 2025
Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone Degeneration.
Journal: Advances in experimental medicine and biology
Published: February 10, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Journal: HGG advances
Published: January 29, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Journal: medRxiv : the preprint server for health sciences
Published: January 20, 2025
Last Updated: 09/26/2026