Last Updated: 09/26/2026
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Found 11 publications
Connecting cilium, stress response, and proteostasis abnormalities inform variant and therapy assessment in RPGRIP1 retinal organoids.
Journal: Stem cell reports
Published: February 19, 2025
Selective disruption of Drp1-independent mitophagy and mitolysosome trafficking by an Alzheimer's disease relevant tau modification in a novel Caenorhabditis elegans model.
Journal: Genetics
Published: February 25, 2022
Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells.
Journal: Stem cells international
Published: July 25, 2021
Genome sequencing in congenital cataracts improves diagnostic yield.
Journal: Human mutation
Published: December 22, 2020
A T231E Mutant that Mimics Pathologic Phosphorylation of Tau in Alzheimer's disease Causes Activation of the Mitochondrial Unfolded Protein Response in C. elegans touch neurons.
Journal: microPublication biology
Published: September 17, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 30, 2020
The role of transglutaminase 2 in mediating glial cell function and pathophysiology in the central nervous system.
Journal: Analytical biochemistry
Published: October 22, 2019
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 06, 2018
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.
Journal: Human molecular genetics
Published: April 02, 2015
Showing 1-11 of 11
Last Updated: 09/26/2026