Terri L McLaren

6PUBLICATIONS
178CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesGene mappingAnthropological geneticsMolecular targets
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Publications (6)

|Feb 26, 2025
Retinal Disease Variability in Female Carriers of RPGR Variants Associated with Retinitis Pigmentosa: Clinical and Genetic Parameters.

Sena A Gocuk, Thomas L Edwards, Jasleen K Jolly

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

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Mar 28, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi

|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

6 joint publications

Tina M Lamey

5 joint publications

Jennifer A Thompson

4 joint publications

John N De Roach

4 joint publications

Fred K Chen