John N De Roach

5PUBLICATIONS
171CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Anthropological geneticsMolecular targetsNeurogenetics
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Publications (5)

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Oct 01, 2022
Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia.

Heather G Mack, Alexis Ceecee Britten-Jones, Myra B McGuinness

|Jan 29, 2021
A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).

Juanita Pappalardo, Rachael C Heath Jeffery, Jennifer A Thompson

|Jan 26, 2021
Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids.

Xiao Zhang, Dan Zhang, Jennifer A Thompson

|Jul 07, 2020
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.

Di Huang, Jennifer A Thompson, Jason Charng

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Frequent Collaborators

4 joint publications

Tina M Lamey

4 joint publications

Fred K Chen

4 joint publications

Terri L McLaren

3 joint publications

Jennifer A Thompson