Last Updated: 11/08/2026
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Found 84 publications
Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa.
Journal: JAMA ophthalmology
Published: October 29, 2026
Extraordinary Tibetan Plateau early-winter heating drove record-breaking winter precipitation in California and adjacent regions.
Journal: Science advances
Published: September 09, 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
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
Phenotype variability in six new patients with beta-mannosidosis.
Journal: Molecular genetics and metabolism
Published: May 11, 2026
In vivo adaptive optics retinal imaging reveals rod-mediated cone photoreceptor disorganization in RHO-associated retinitis pigmentosa.
Journal: npj biomedical innovations
Published: April 07, 2026
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.
Journal: JAMA ophthalmology
Published: December 04, 2025
Nanoengineering conductive soft interfaces for electrogenic cell interactions: a review of materials, fabrication and functionalisation strategies.
Journal: Biofabrication
Published: November 05, 2025
Transgene-Induced Chromosomal Rearrangement With Aberrant Human Vascular Endothelial Growth Factor at the Optic Fissure Leads to Uveal Coloboma in Mice.
Journal: Investigative ophthalmology & visual science
Published: October 03, 2025
The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics.
Journal: American journal of ophthalmology
Published: September 25, 2025
FOXP4 Variants Are Associated With Plateau Iris and Angle Closure Glaucoma.
Journal: Investigative ophthalmology & visual science
Published: July 10, 2025
Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium.
Journal: bioRxiv : the preprint server for biology
Published: May 02, 2025
Last Updated: 11/08/2026